Veidlapa Nr. M-3 (8)
Study Course Description
Clinical Genetics IV
Course Code
RGN_043
Branch of Science
Anatomy; Clinical medicine
ECTS
54.00
Target Audience
Medicine
LQF
Level 8
Study Course Implementer
Course Supervisor
Madara Rēdele
Residency Speciality
Speciality
Medical Geneticist
Supervisor of Medical Speciality
Madara Rēdele
Contacts
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About Study Course
Objective
To provide the medical genetics resident with theoretical knowledge and practical skills and improvement thereof in order to prepare the doctor for certification in the speciality of a medical geneticist in accordance with the laws and regulations of the Republic of Latvia.
Learning Outcomes
Knowledge
1.Medical genetics resident defines the role of genetic factors in maintaining health, as well as in the development of congenital and multi-factorial diseases, role of genes and teratogens in the development of human congenital anomalies. Describes how changes in chromosomes and DNA change the function or number of genes, main monogenic and other types of inheritance. Describes the clinical signs of the most common congenital monogenic and chromosomal diseases. Understands the clinical significance of penetrance, variable expression, anticipation, and new mutation. Explains the possibilities and limitations of genetic investigation. Describes the main methods of obtaining the test sample in prenatal diagnosis. Understands the main ethical issues in genetics.
Skills
1.As a result of completing the study course, the medical genetics resident will be able to choose the appropriate cytogenetic examination according to the indications and interpret the result. Collects family anamnesis, draws up and interprets the family tree, recognises patients with a genetic disease or risk of developing a genetic disease, provides genetic counselling according to the objectives, methods and practice adopted, calculates the monogenetic disease recurrence risk, explains the concept of risk to the patient in an understandable way, interprets the results provided by the genetic laboratory, provides the genetic information in an understandable way, and allows the patient and their family to make the decision.
Competences
1.After successful completion of the study course, the medical genetics resident has acquired the mandatory competence. Selects an examination plan appropriate for setting the diagnosis, prescribes examinations; evaluates possible genetic disease heterogeneity and the impact thereof on the diagnosis; sets a genetic diagnosis according to the practice of evidence-based medicine; provides the patient with information about the mechanism of inheritance of the genetic disease, family planning, course of the disease and prognosis; recommends consultations of other specialists according to the medical problems, the development of which is characteristic of the specific genetic syndrome; prescribes medications specific to genetic diseases. Able to draw up an appropriate investigation plan for establishing a diagnosis, prescribe examinations. Knowledge of the specific problem is sufficient to understand its essence, to diagnose and, if necessary, provide emergency assistance, implement diagnostic, treatment and preventive measures under the guidance of a specialist.
Assessment
Individual work
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Title
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% from total grade
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Grade
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1.
Individual work |
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1. To search for phenotypic and genotypic correlations of genetic variation using evidence-based electronic databases.
2. Using evidence-based databases of scientific literature, to create an individualised disease description for patients with a syndromic-monogenic, chromosomal or inherited pathology.
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Examination
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Title
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% from total grade
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Grade
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1.
Examination |
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At the end of the course, teaching staff:
1. Assesses the practical skills acquired by medical genetics resident on a 10-point scale, recording the assessment in the medical resident’s book.
2. Assesses the theoretical knowledge of the medical genetics resident on a 10-point scale after a written examination – a multiple-choice test, recording the assessment in the medical resident’s book.
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Study Course Theme Plan
FULL-TIME
Part 1
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Seminar
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Modality
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Location
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Topics
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Myopathies. LGMD. Differential diagnosis. Genetic investigation. Therapy options.
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Seminar
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Modality
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Location
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Topics
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Myopathies. Distal myopathy. Differential diagnosis. Genetic investigation. Therapy options.
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Seminar
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Modality
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Location
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Topics
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Myopathies. Myotonia. Differential diagnosis. Genetic investigation. Therapy options.
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Seminar
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Modality
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Location
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Topics
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Genetically determined epileptic syndromes in newborns, children and adolescents
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Seminar
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Modality
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Location
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Topics
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Ethical aspects of genetic counselling, discussion of complex cases, specifics of prenatal diagnosis
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Seminar
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Modality
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Location
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Topics
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Ethical aspects of genetic counselling, discussion of complex cases, specifics of prenatal diagnosis
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Seminar
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Modality
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Location
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Topics
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Ethical aspects of genetic counselling, discussion of complex cases, specifics of prenatal diagnosis
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Seminar
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Modality
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Location
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Topics
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Ethical aspects of genetic counselling, discussion of complex cases
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Seminar
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Modality
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Location
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Topics
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Ethical aspects of genetic counselling, discussion of complex cases
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Seminar
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Modality
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Location
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Topics
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Relation of clefts to genetic pathology
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Seminar
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Modality
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Location
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Topics
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Relation of clefts to genetic pathology
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Seminar
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Modality
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Location
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Topics
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Genetic counselling: indications for choosing an appropriate method of genetic investigation
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Seminar
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Modality
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Location
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Topics
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Genetic counselling: indications for choosing an appropriate method of genetic investigation
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Seminar
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Modality
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Location
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Topics
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Genetic counselling: indications for choosing an appropriate method of genetic investigation
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Seminar
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Modality
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Location
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Topics
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Lysosomal storage diseases. Differential diagnosis, examination, therapy options. Enzyme replacement therapy
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Seminar
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Modality
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Location
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Topics
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Lysosomal storage diseases. Differential diagnosis, examination, therapy options. Enzyme replacement therapy
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Seminar
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Modality
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Location
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Topics
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Lysosomal storage diseases. Differential diagnosis, examination, therapy options. Enzyme replacement therapy
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Seminar
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Modality
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Location
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Topics
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Inherited tumours. Differential diagnosis, genetic investigation, ethical aspects.
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Seminar
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Modality
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Location
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Topics
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Inherited tumours. Differential diagnosis, genetic investigation, ethical aspects.
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Seminar
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Modality
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Location
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Topics
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Inherited tumours. Differential diagnosis, genetic investigation, ethical aspects.
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Seminar
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Modality
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Location
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Topics
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Interpretation and application of variants of unknown significance (VUS) in clinical practice
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Seminar
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Modality
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Location
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Topics
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Interpretation and application of variants of unknown significance (VUS) in clinical practice
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Seminar
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Modality
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Location
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Topics
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Interpretation and application of variants of unknown significance (VUS) in clinical practice
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Seminar
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Modality
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Location
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Topics
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Indications for prescribing a complete exome sequencing and interpretation of results
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Seminar
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Modality
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Location
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Topics
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Indications for prescribing a complete exome sequencing and interpretation of results
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Seminar
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Modality
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Location
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Topics
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Indications for prescribing a complete exome sequencing and interpretation of results
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Seminar
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Modality
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Location
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Topics
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Indications for prescribing trio exome sequencing, interpretation of results and application in clinical practice
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Seminar
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Modality
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Location
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Topics
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Indications of human genome investigation and interpretation of results
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Seminar
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Modality
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Location
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Topics
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Indications of human genome investigation and interpretation of results
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Seminar
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Location
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Topics
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Indications of human genome investigation and interpretation of results
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Seminar
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Modality
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Location
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Topics
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Indications for prescribing trio genome sequencing, interpretation of results and application in clinical practice
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Seminar
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Modality
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Location
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Topics
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Indications for prescribing trio genome sequencing, interpretation of results and application in clinical practice
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Seminar
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Modality
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Location
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Topics
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Doctor-patient relationship in genetic counselling. Risks of physician burnout syndrome.
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Total ECTS (Creditpoints):
54.00
Number of Residency Seminars:
33
Length (weeks):
40
Final Examination:
Residency exam (Theory and practice)
Bibliography
Required Reading
1.
Gross, S. J. Introduction to Perinatal Disorders and Reproductive Genetics. In Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics. https://doi.org/10.1016/b978-0-12-815236-2.00001-1, 2022
2.
Milunsky, A., & Milunsky, J. M. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment: 6th Edition. In Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. https://doi.org/10.1002/9781444314342, 2010
3.
Leung, P. C. K., & Qiao, J. Human reproductive and prenatal genetics. In Human Reproductive and Prenatal Genetics. https://doi.org/10.1016/C2016-0-05333-0, 2018
4.
Harper, J. C. Preimplantation genetic diagnosis. In Preimplantation Genetic Diagnosis, 2nd Edition. https://doi.org/10.1017/CBO9780511581571, 2009
5.
DiMaio, M. S., Fox, J. E., & Mahoney, M. J. Prenatal Diagnosis: Cases and Clinical Challenges. In Prenatal Diagnosis: Cases and Clinical Challenges. https://doi.org/10.1002/9780470696262, 2010
6.
Twining’s Textbook of Fetal Abnormalities. In Twining’s Textbook of Fetal Abnormalities. https://doi.org/10.1016/c2010-0-67979-x, 2015
7.
Paladini, D., & Volpe, P. Ultrasound of Congenital Fetal Anomalies. In Ultrasound of Congenital Fetal Anomalies. https://doi.org/10.4324/9780429462450, 2018
8.
Stevenson, R., Hall, J., Everman, D., & Solomon, B. (Eds.), Human Malformations and Related Anomalies. Oxford, UK: Oxford University Press, 2015
9.
Harper, P. Practical Genetic Counselling (7th ed.). CRC Press, 2011
10.
Cassidy, S., Allanson, J. Management of Genetic Syndromes. Wiley-Blackwell, 2010
11.
Firth, H., Hurst, J. Oxford Desk Reference Clinical Genetics. Oxford, 2007
12.
Read, A, Donnai, D. New clinical Genetics. A guide to Genomics Medicine. Scion, 2021
13.
Dhar, S., Sandesh, N, Eble, T. Hanbook of Clinical adult Genetics and genomics. Elssevier, 2020
14.
Reardson, W. The Bedside Dysmorhologist. Oxford, 2016
15.
Jones, Kenneth L, Marilyn C. Jones, and Miguel . Campo. Smith's Recognizable Patterns of Human Malformation, 2013
16.
Norton, M.E., Scoutt, L., Feldstein, V. Callens Ultrasonography in Obstretics And Gynecology. Elsevier, 2017
17.
Hollak, C., Lachmann, R. Inherited Metabolic Disease in Adults.Oxford, 2016
18.
Saudubray, F., Van den Berghe, W. Inbron Metabolic diseases. Springer, 2016
19.
Katirji, B., Kaminski, J.H, Ruff, R.L. Neuromuscular Disorders in Clinical Paractice Vol1., Vol2., Springer, 2014
20.
Govidan, R., Devarakonda, S. Cancer Genomics for the Clinician. Springer, 2019
Other Information Sources
1.
OMIM. https://omim.org
2.
3.
Genereviews. https://www.ncbi.nlm.nih.gov/books/NBK1116/
4.
Phenomizer. HPO. https://hpo.jax.org/app/tools/phenomizer
5.
Varsome. https://varsome.com/
6.
Hogge, A., Wilkins, I., Hills, L., Cohlan B. Sanders Structural Fetal Abnormalities. McGraw Hill Education. 2017
7.
Reprotox. https://www.reprotox.org/
8.
Metagene. https://www.metagene.de/
9.
Vademecum Metabolicum. http://www.vademetab.org/
10.
Metabolic Emergency Protocol. https://www.emergencyprotocol.net/
11.
12.
Treat NMD. https://treat-nmd.org/
13.
NCCN Guidelines. https://www.nccn.org/guidelines/guidelines-detail?category=2&id=1503