Results 251 to 260 of about 199,391 (364)

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in patients with Williams–Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients.
Maria Francesca Bedeschi   +10 more
wiley   +1 more source

Overlapping and separable activities of BRA-2 and HIM-17 promote occurrence and regulation of pairing and synapsis during Caenorhabditis elegans meiosis. [PDF]

open access: yesNat Commun
Blazickova J   +12 more
europepmc   +1 more source

Genome-wide linkage analysis of Scandinavian affected sib-pairs supports presence of susceptibility loci for celiac disease on chromosomes 5 and 11 [PDF]

open access: bronze, 2001
Åsa Torinsson Naluai   +12 more
openalex   +1 more source

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren   +10 more
wiley   +1 more source

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