Results 141 to 150 of about 125,515 (325)
G. Touloumi+5 more
semanticscholar +1 more source
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero+17 more
wiley +1 more source
The crucial impact of NIH funding on allergy/immunology patient care and research. [PDF]
Barrett NA+12 more
europepmc +1 more source
D. Moore+5 more
semanticscholar +1 more source
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff+8 more
wiley +1 more source
From syndromic clues to diagnosis: understanding CARD11-driven disorders. [PDF]
García-Martínez E+5 more
europepmc +1 more source
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe+19 more
wiley +1 more source
X-linked Lymphoproliferative Disease Type 1 Presenting as Lymphoma in a Male Patient With Atypical Common Variable Immunodeficiency Features: A Case of Delayed Diagnosis. [PDF]
Abdulsalam TA, Ahmed S.
europepmc +1 more source
F. Pulido+12 more
semanticscholar +1 more source
The transition period in dairy cows, spanning 3 weeks before and after calving, is a critical phase characterized by increased nutrient demands, reduced dry matter intake (DMI), and elevated risk of metabolic disorders such as negative nutrient balance (NNB), lipolysis, proteolysis, and oxidative stress.
Mohammed S. Seleem+5 more
wiley +1 more source