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American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2017, Volume 173, Issue 8, pp. 2007 - 2073
The 37th Annual David W. Smith Workshop on Malformations and Morphogenesis occurred on September 9th-14th, 2016 at the University of California-Los Angeles... 
therapeutics | neural crestopathies | congenital malformations | deafness | mosaicism | skin pigmentation | GENETICS & HEREDITY | Conferences, meetings and seminars | Workshops (Educational programs) | Conferences and conventions | Morphogenesis | Conferences | Congenital defects | Real estate sales | Ear | Mosaicism | Skin | Pigmentation | Hearing loss
Journal Article
Nature, ISSN 0028-0836, 02/2012, Volume 482, Issue 7383, pp. 98 - 102
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 08/2011, Volume 365, Issue 7, pp. 611 - 619
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2014, Volume 164, Issue 7, pp. 1713 - 1733
Journal Article
Nature Medicine, ISSN 1078-8956, 12/2012, Volume 18, Issue 12, p. 1797
  Hydrocephalus is a common neurological disorder that leads to expansion of the cerebral ventricles and is associated with a high rate of morbidity and... 
Neonatal care | Neural networks | Rodents | Models | Cells
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2677 - 2684
Proteus syndrome (PS) is a rare disorder caused by a mosaic AKT1 variant that comprises patchy overgrowth of tissues derived from all three germinal layers... 
vascular malformations | overgrowth syndromes | Proteus syndrome | AKT1 mutation | CRITERIA | DIFFERENTIAL-DIAGNOSIS | CYST | HEMANGIOMA | COLOR-DOPPLER | LARGE COHORT | SPLEEN | LIVER | MUTATION | GENETICS & HEREDITY | Spleen | Thrombocytopenia | Splenomegaly | AKT1 protein | Laboratories | Liver | Viscera | Portal vein
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 2873 - 2885
Cloacal exstrophy (CE) and persistent cloaca (PC) (alternatively termed urorectal septum malformation sequence [URSMS]), represent two major cloacal defects... 
urorectal septum malformation sequence | cloacal exstrophy | OEIS complex | omphalocele | persistent cloaca | imperforate anus | population‐based study | population-based study | NEURAL-TUBE DEFECTS | CONJOINED TWINS | EXSTROPHY-EPISPADIAS COMPLEX | MONOZYGOTIC TWINS | ANUS-SPINAL DEFECTS | GENETICS & HEREDITY | IDENTICAL-TWINS | SEPTUM MALFORMATION SEQUENCE | OF-THE-LITERATURE | Congenital Abnormalities - epidemiology | Urogenital Abnormalities - epidemiology | Humans | Congenital Abnormalities - physiopathology | Infant | Male | Hernia, Umbilical - diagnosis | Hernia, Umbilical - physiopathology | Congenital Abnormalities - diagnosis | Bladder Exstrophy - diagnosis | Scoliosis - physiopathology | Abnormalities, Multiple - epidemiology | Adult | Cloaca - physiopathology | Female | Urogenital Abnormalities - physiopathology | Anus, Imperforate - diagnosis | Infant, Newborn | Scoliosis - epidemiology | Urogenital Abnormalities - diagnosis | Risk Factors | Hernia, Umbilical - epidemiology | Bladder Exstrophy - epidemiology | Abnormalities, Multiple - physiopathology | Pregnancy | Anus, Imperforate - physiopathology | Abnormalities, Multiple - diagnosis | Bladder Exstrophy - physiopathology | Anus, Imperforate - epidemiology | Scoliosis - diagnosis | Prevention | Birth defects | Reproduction | Factor analysis | Congenital defects | Septum | Reproductive technologies | Progesterone | Birth | Health risk assessment | Risk factors | Folic acid | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 10/2016, Volume 170, Issue 10, pp. 2605 - 2610
Journal Article
Journal of the American Academy of Dermatology, ISSN 0190-9622, 04/2018, Volume 78, Issue 4, pp. 725 - 732
Journal Article