Results 141 to 150 of about 592,523 (331)
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
Female Labor and Gynecological Diseases.—A paper of considerable sociological interest lias recently been published [PDF]
JOHN G. CLARK
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ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei+10 more
wiley +1 more source
Care of Patients Undergoing Gynecologic and Abdominal Procedures Before, During and After Operation. [PDF]
Edward Montgomery, E. E. MONTGOMERY
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ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote+9 more
wiley +1 more source
Case Reports in Obstetrics and Gynecology
doaj +1 more source
THE C??SAREAN SECTION IN ITS RELATION TO INDUCED PREMATURE LABOR, VERSION, ATYPICAL FORCEPS OPERATIONS, CRANIOTOMY AND SPONTANEOUS BIRTH IN CONTRACTED PELVES. BEING A SERIES OF SIX ESSAYS BASED UPON THE MATERIAL OF THE VIENNESE UNIVERSITY CLINIC FOR OBSTETRICS AND GYNECOLOGY, UNDER HOFRATH PROFESSOR CARL BRAUN [PDF]
Egon Braun, K. A. HERZFELD
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Objective A growing body of evidence indicates a strong genetic overlap between developmental and epileptic encephalopathies (DEEs) and movement disorders. De novo loss‐of‐function variants in NUS1 have been recently identified in DEE cases. Herein, we report a large cohort of cases with pathogenic NUS1 variants and describe their clinical presentation
Sarah M. Brooker+79 more
wiley +1 more source
Retracted: Extreme Anemia (Hemoglobin 1.8 g/dL) Secondary to Abnormal Uterine Bleeding
Case Reports in Obstetrics and Gynecology
doaj +1 more source