Results 181 to 190 of about 207,727 (386)
Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders +11 more
wiley +1 more source
مجلة جامعة دمشق للعلوم الطبيةBackground and Objective: Pediatric esophageal strictures in general, and refractory strictures in particular are an important cause of morbidity and growth failure in children and could be a big challenge for clinicians, this study was conducted to ...
Dr. Rama Alkhaddour , Prof. Lina Khouri
doaj
THE TREATMENT OF URETHRAL STRICTURE BY EXCISION [PDF]
, 1919 R. Hamilton Russell
openalex +1 more source
Використання гольмієвого лазера в лікуванні стриктур сечоводу [PDF]
, 2011 Стриктуры мочеточников являются частым осложнением акушерско – гинекологических операций, длительного стояния камня в мочеточнике и многократных сеансов ЭУВЛ.
Борис, Ю.Б. +3 more
core
AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher +6 more
wiley +1 more source
RETROGRADE CATHETERIZATION FOR IMPERMEABLE STRICTURE OF THE URETHRA [PDF]
, 1921 W. Foster
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy +15 more
wiley +1 more source