Results 161 to 170 of about 572,077 (339)

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää   +14 more
wiley   +1 more source

Effects of maternal body mass index and weight gain during pregnancy on the outcome of delivery

open access: yesمجله دانشگاه علوم پزشکی گرگان, 2007
Background&Objective: Abnormal BMI of mother and weight gain play very important role in the outcome of pregnancy. Several researches were done on the correlation between body mass index (BMI) and mother weight gain in pregnancy, and the complications in
Tabandeh A, Kashani E
doaj  

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

The study of outcome of pregnancy with first trimester vaginal bleeding and its complications

open access: diamond, 2022
Sachin Siddu   +3 more
openalex   +2 more sources

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates   +6 more
wiley   +1 more source

Medical complications in pregnancy

open access: yesJournal of Family Medicine and Primary Care
Harish Gupta
doaj   +1 more source

PO-0784 Neurological Complications In Twin Pregnancies With Fetal Death [PDF]

open access: bronze, 2014
Afef Ben Thabet   +8 more
openalex   +1 more source

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