Results 161 to 170 of about 115,457 (286)

TBX3‐ Related Disorder

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley   +1 more source

Uncovered diversity of a predominantly Andean butterfly clade in the Brazilian Atlantic Forest : a revision of the genus Praepedaliodes Forster (Lepidoptera : Nymphalidae, Satyrinae, Satyrini) [PDF]

open access: yes, 2017
Barbosa, E. P.   +9 more
core   +1 more source

The American species of the annulatipes group of the subgenus Lepidohelea, genus Forcipomyia (Diptera: Ceratopogonidae) [PDF]

open access: yes, 2010
The annulatipes group of the genus Forcipomyia Meigen, subgenus Lepidohelea Kieffer, is represented in the Western Hemisphere by 12 species. Keys are presented for their identification, and to distinguish them from other groups of the subgenus ...
Spinelli, Gustavo R., Wirth, Willis W.
core  

A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two‐part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow‐up MG evaluation.
Sarah Jurgensmeyer Langas   +5 more
wiley   +1 more source

How effective and persistent are fragmentsof male genitalia as mating plugs? [PDF]

open access: bronze, 2012
Marie E. Herberstein   +4 more
openalex   +1 more source

Clinical, Hormonal and Genetics Features in patients with Androgen Insensitivity Syndrome in Cytogenetic Laboratories in Semarang [PDF]

open access: yes, 2006
Androgen insensitivity syndrome (AIS) is an X-linked disorder caused by impaired Androgen Receptor (AR) which is encoded in Xq 11-12. In this condition, although the androgen is produced sufficiently, but the peripheral masculinizing effect is blocked ...
Tonang, Alvin
core  

The Impact of the Parental Patterns of Morbidity and Comorbidity in the Cross‐Generational Transmission of Risk for Major Depression and Alcohol Use Disorder

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT To further understand the inter‐relationship of the familial transmission of major depression (MD) and alcohol use disorder (AUD), we examine, via a multivariable Cox proportional hazards model, risks for AUD and MD in 1,244,516 individuals born in Sweden from 1970 to 1990 to intact mother–father pairs as a function of parental diagnoses of MD
Kenneth S. Kendler   +3 more
wiley   +1 more source

A scoping review of non‐binary research in “Australian” social sciences: Community, solidarity, resilience and resisting marginalisation

open access: yesAustralian Journal of Social Issues, EarlyView.
Abstract Non‐binary and genderqueer identities are increasingly discussed in public discourse and academia, but there remains a dearth of academic literature centred on non‐binary people's lives and experiences. When non‐binary people are included in research, it is frequently as an additive to explorations of trans identities and subsumed under the ...
Lucy Nicholas, Sal Clark, Chloe Falzon
wiley   +1 more source

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