Results 101 to 110 of about 87,817 (309)
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini+8 more
wiley +1 more source
SCREENING OF BREEDING BULLS OF DIFFERENT BREEDS THROUGH KARYOTYPING [PDF]
A study of chromosomal analysis for 200 breeding bulls of different breeds of cattle (Jersey, Holstein Friesian, Sahiwal and Cross-bred) and Nili-Ravi buffalo, maintained at Semen Production Unit, Qadirabad and Livestock Experiment Station, Bhunikey ...
I. Ahmad, K. Javed1 and A. Sattar
doaj
Exploring Oral Health Related Quality of Life in Rett Syndrome Using Directed Content Analysis
ABSTRACT No validated oral health‐related quality of life (OHRQOL) instrument currently exists for those with severe intellectual and developmental disabilities and who communicate non‐verbally. This qualitative study aimed to explore the domains that were important to the oral health‐related quality of life in individuals with Rett syndrome (RTT).
Yvonne Yee Lok Lai+4 more
wiley +1 more source
Comparative cytogenetic study in Muscidae flies
The chromosome modal number in Muscoidea Diptera is 2n = 12, including five pairs of autosomes and one sex chromosome pair. Nevertheless, some species with 2n = 10 chromosomes have been described, all of them from the Muscidae family.
PP. Parise-Maltempi, RMP. Avancini
doaj +1 more source
ABSTRACT Sotos syndrome is an autosomal dominant condition caused by pathogenic variants in the NSD1 gene on chromosome 5q35. It is characterized by macrosomia, distinctive facial features, and developmental delays. Patients are also reported to have a behavioral phenotype including autism spectrum disorder, attention deficit/hyperactivity disorder ...
Aravind Viswanathan+4 more
wiley +1 more source
ABSTRACT Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe developmental delays, typical facial features, ataxia, seizures, speech impairments, sleeping difficulties, and a happy demeanor. Caregivers of individuals with AS often report feeding problems, with difficulties including issues with obesity, failure to gain ...
Ciara Cassidy+6 more
wiley +1 more source
Proteogenomic characterization of cholangiocarcinoma
Proteogenomic characterization of cholangiocarcinoma with therapeutic strategies Abstract Background and Aims Cholangiocarcinoma (CCA) is a highly heterogeneous cancer with limited understanding and few effective therapeutic approaches. We aimed at providing a proteogenomic CCA characterization to inform biological processes and treatment ...
Mengjie Deng+18 more
wiley +1 more source
A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas+2 more
wiley +1 more source
Structural sex-chromosomes of two species in <i>Plagiochila</i>
Michiharu Segawa
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Analytical Review: Mosaicism, Chimerism and Sex-Chromosome Inactivation [PDF]
Raymond L. Teplitz, Ernest Beutler
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