Results 151 to 160 of about 52,020 (257)

Consanguinity and adverse fetal outcomes- a population-based cohort study from a multiethnic population in the Middle East. [PDF]

BMC Pregnancy Childbirth
Thomas J, Minisha F, Khenyab N, Abuyaqoub S, Salama H, Obaidly SA, Aldewik N, AlRifai H, Farrell T.   +8 more
europepmc   +1 more source

Lennox–Gastaut syndrome in a patient with biallelic TELO2 variants

Epileptic Disorders, EarlyView.
Melissa Odabassian, Kenneth A. Myers
wiley   +1 more source

Multi‐Omics Profiling Uncovers Predictive Factors for Tumor‐Infiltrating Lymphocyte Therapy in Ovarian Cancer

Journal of Clinical Laboratory Analysis, EarlyView.
We profiled tumors from 10 ovarian cancer patients with whole‐exome sequencing (WES), bulk RNA‐seq, and single‐cell RNA‐seq to uncover predictors of successful tumor‐infiltrating lymphocyte (TIL) isolation and expansion. TIL+ tumors exhibited enriched CD8+ Teff/Tem populations with distinctive metabolic activity, dendritic‐cell–skewed myeloid states ...
Xiuzhen Wang, Rui Hou, Jinguo Chen, Bo He, Peiwen Liu, Genhai Zhu, Lan Hong, Wenjun Zhu   +7 more
wiley   +1 more source

Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar. [PDF]

Hum Genomics
AlMarzooqi SK, Bux RI, Joy JA, Islam N, Ben-Omran T, Al-Hashimi AA, Alkowari M, Al-Shafai M.   +7 more
europepmc   +1 more source

De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy

Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley   +1 more source

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Infantile exocrine pancreatic insufficiency due to a homozygous SPINK1 pathogenic variant in two siblings: A case report

JPGN Reports, EarlyView.
Abstract Infantile exocrine pancreatic insufficiency is a rare condition, most often encountered in the context of cystic fibrosis or Shwachman–Diamond syndrome. The SPINK1 gene encodes a trypsin inhibitor protein that prevents the premature activation of digestive enzymes in pancreatic tissue.
France Chalon, Angélique Lhomme, Marie Léonard, Laura Zambelli, Serpil Alkan, Corinne Fasquelle, Aimé Lumaka, Guillaume Debray, Vincent Bours, Julie Frère, Emeline Bequet   +10 more
wiley   +1 more source

Burden of Neurological Disorders in Resource-Limited Settings: Lessons from Pakistan for Global Neurology. [PDF]

Yale J Biol Med
Fatima SB, Mughal M, Badshah M, Mumtaz S, Malik S.   +4 more
europepmc   +1 more source

Delayed diagnosis of 3β‐HSD7 deficiency in adolescence: Two case reports and review of the literature

JPGN Reports, EarlyView.
ABSTRACT Congenital bile acid synthesis defects (BASD), the most common of which is 3β‐hydroxy‐Δ5‐C27‐steroid dehydrogenase oxidoreductase (3β‐HSD7) deficiency, are a rare cause of fat‐soluble vitamin malabsorption. We describe a 14‐year‐old girl who presented at 14 months with a left distal femur fracture and failure to thrive.
Samantha Pendleton, Mojdeh Mostafavi, Jamie Mathew, Kayla Ganzburg, Barry Hirsch, Nadia Ovchinsky, Wael Sayej   +6 more
wiley   +1 more source

Breastfeeding, Family Stress, and Climate as Key Determinants of Atopic Dermatitis Severity in Children: A Cross-Sectional Study. [PDF]

Clin Cosmet Investig Dermatol
Molla A, Althobaiti S.
europepmc   +1 more source