Results 101 to 110 of about 118,674 (316)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source
Metastasis of Ductal Breast Carcinoma to the Vagina – A Case Report
, 2013 Primary cancers of the vagina are rare, and so vaginal tumours are likely to represent metastasis from another site. Although breast cancer is a common malignancy, it rarely gives rise to vaginal metastases.
Anna Candida Andrade de Camaret +1 more
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HUBUNGAN KUMAN VAGINA DENGAN KEJADIAN PERSALINANPRETERM [PDF]
, 2022 Secara global, kelahiran prematur adalah penyebab utama mortalitas dan morbiditas perinatal dan neonatal. Bayi prematur sangat rentan komplikasi akibat gangguan pernapasan, kesulitan dalam pemberian makan, regulasi suhu tubuh yang buruk dan risiko ...
Poldo, Reinaldo
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A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco +6 more
wiley +1 more source
, 2014 A playbill for the University Players' production of "The Vagina Monologues" at Fairleigh Dickinson University's Wilson Auditorium. Presented by Fairleigh Dickinson University's University Players, Multicultural Council, and Office of Student Life.Award ...
University Players
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT DNM1 encephalopathy is a rare autosomal dominant genetic condition characterized by a range of neurological and developmental manifestations. The typical phenotype is severe, including profound intellectual disability, treatment‐resistant epilepsy, ataxia, and structural brain abnormalities. However, milder presentations have increasingly been
Caroline Crain +6 more
wiley +1 more source
STERILIZATION OF THE VAGINA [PDF]
The American Journal of the Medical Sciences, 1895 n ...
openaire +1 more source
A preclinical mouse model mimicking the ovarian cancer‐induced estrogen deficiency‐depression axis
Animal Models and Experimental Medicine, EarlyView.A preclinical mouse model of ovarian cancer–related depression was developed by combining intraperitoneal tumor cell injection, ovariectomy, and chronic restraint stress. The model replicates key clinical features including estrogen deficiency, depressive‐like behaviors, and tumor progression, and provides a reliable tool for studying the endocrine ...
Jiamin Liu +6 more
wiley +1 more source