Results 211 to 220 of about 207,668 (337)

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes

open access: yesClinical Genetics, EarlyView.
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Akram Mokhtari   +7 more
wiley   +1 more source

Use of dual-phase contrast computed tomography for evaluation of the normal canine male genital tract [PDF]

open access: yes, 2016
Ali   +22 more
core   +2 more sources

Unraveling the Genetic Mysteries of Müllerian Anomalies: Research Approaches and Clinical Significance

open access: yesClinical Genetics, EarlyView.
This review primarily summarizes the genetic defects in Müllerian anomalies, the tools used to validate these genetic defects, and the future clinical significance of identifying the precise genetic etiology of Müllerian anomalies. ABSTRACT Müllerian anomalies are a collection of heterogeneous anatomical disorders of the female genital tract that ...
Jingfang Li   +5 more
wiley   +1 more source

DISEASES DIAGNOSED IN THE EXTERN GENITAL ORGANS OF BULLS: RETROSPECTIVE STUDY (2007-2013)

open access: gold, 2018
Rogério Elias Rabelo   +5 more
openalex   +1 more source

P09.24 The aetiology of genital ulcer disease and association with hiv infection in zimbabwe [PDF]

open access: bronze, 2015
Anna Machiha   +12 more
openalex   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

open access: yesClinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau   +7 more
wiley   +1 more source

Anogenital Contact Dermatitis in Spain: A REIDAC Study of Patients Undergoing Patch Testing in 2019–2024

open access: yesContact Dermatitis, EarlyView.
Allergic contact dermatitis is very common in patients with anogenital lesions referred for patch testing in Spain. Key allergens include fragrances, preservatives and topical treatments like anaesthetics and steroids. Emerging sensitisers including benzisothiazolinone and sodium metabisulphite are also relevant.
Mercè Grau‐Pérez   +29 more
wiley   +1 more source

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