Results 261 to 270 of about 940,856 (311)

The territory, at the heart of new fish-farming innovations [PDF]

open access: yes, 2017
Da Silva, Newton José Rodrigues   +4 more
core  

Biallelic MYH3 Variants Cause Distal Arthrogryposis in Compound Heterozygosity and a Subclinical Phenotype in Simple Heterozygosity. Codominance or Recessive Inheritance?

open access: yesClinical Genetics, EarlyView.
A nuclear family affected by distal arthrogryposis with novel biallelic MYH3 variants, which at the heterozygous state yield a subclinical phenotype, highlighting the complexity of MYH3‐related disorders and their inheritance modes. ABSTRACT Distal arthrogryposis constitutes a highly heterogeneous group of disorders with a critical need for clear ...
Omar Zgheib   +6 more
wiley   +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

Le développement du tourisme dans le département de Sololá au Guatemala

open access: yesTéoros, 2010
Louis Jolin, Juliana Chaves dos Santos
doaj  

[Precocious puberty in the McCune-Albright Syndrome: a case report]. [PDF]

open access: yesPan Afr Med J
Rifai K   +4 more
europepmc   +1 more source

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