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BMJ Case Reports, ISSN 1757-790X, 05/2019, Volume 12, Issue 5, p. e228662
Uniparental disomy (UPD) is a congenital disease characterised by the presence of two homologous chromosomes inherited from one parent in a diploid offspring.... 
Genotype & phenotype | Puberty | Obesity | Genes | Growth hormones | Thyroid gland | Physical growth | Chromosomes | Patients | Age | Manuscripts | Tumors
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2501 - 2508
Wolf–Hirschhorn syndrome is a well‐defined disorder due to 4p16.3 deletion, characterized by distinct facial features, intellectual disability, prenatal and... 
mir‐943 | Wolf–Hirschhorn syndrome | gene | CHD | NSD2 | NSD2 gene | mir-943 | DEFECT | PHENOTYPE | WOLF-HIRSCHHORN-SYNDROME | LETM1 | SEIZURES | DOWN-SYNDROME | GENETICS & HEREDITY | NKX2-5 | Wolf-Hirschhorn syndrome | CRITICAL REGION | Coronary heart disease | Seizures (Medicine) | Literature reviews | Phenotypes | Microencephaly | Growth rate | Clonal deletion | Pathogenesis | Physical growth | Mental retardation | Growth disorders | Genotypes | Seizures
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 867 - 876
Journal Article
Genetics in medicine : official journal of the American College of Medical Genetics, ISSN 1098-3600, 03/2019, Volume 21, Issue 3, pp. 764 - 765
A correction has been published to this Article. The PDF and HTML have been updated accordingly. 
Journal Article
Hormone Research in Paediatrics, ISSN 1663-2818, 10/2013, Volume 80, Issue 3, pp. 207 - 212
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 04/2013, Volume 161, Issue 4, pp. 809 - 816
Ever since the 9th century during the High Middle Ages, the “Schola Medica Salernitana,” believed to be the first medical school in the western world,... 
Salerno | middleages | birth defects | Schola Medica Salernitana | Birth defects | Middleages | NEUROLOGY | GENETICS & HEREDITY | Medical colleges | Medical genetics | Age
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 11/2013, Volume 161, Issue 11, pp. 2920 - 2929
During the 18th century in Naples, Raimondo di Sangro, Prince of Sansevero, completed works on the family chapel, the so-called Cappella Sansevero. The chapel... 
Congenital heart defect | Anatomical machines | Morphology | Sansevero chapel | sansevero chapel | morphology | anatomical machines | GENETICS & HEREDITY | congenital heart defect | Anatomy - history | Humans | Female | Male | Medicine in the Arts | History, 18th Century | Anatomy, Artistic | Statues | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2009, Volume 149A, Issue 11, pp. 2452 - 2456
Journal Article