Results 191 to 200 of about 54,157 (345)

Neonatal Glanzmann's Thrombasthenia Presenting as Refractory Post-circumcision Hemorrhage in a Region of High Consanguinity: A Case Report. [PDF]

open access: yesCureus
Alyami NH   +8 more
europepmc   +1 more source

Clinical findings, consanguinity, and pedigrees in children with anophthalmos in southern India [PDF]

open access: bronze, 2001
Stella Hornby   +4 more
openalex   +1 more source

Association of Consanguinity and ABO Blood Groups with β-thalassemia major in District Dadu and Hyderabad, Pakistan

open access: diamond, 2019
Zulfiqar Ali Laghari   +4 more
openalex   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

open access: yesAnimal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan   +15 more
wiley   +1 more source

OGFRL1 Deficiency Causes Chronic Recurrent Multifocal Osteomyelitis Via Pathologic Osteoclastogenesis, With Therapeutic Response to Tumor Necrosis Factor Inhibitor

open access: yesArthritis &Rheumatology, EarlyView.
Objective To verify the pathogenesis of the opioid growth factor receptor like‐1 (OGFRL1) loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a patient with chronic recurrent multifocal osteomyelitis (CRMO) and to investigate the underlying mechanism.
Wen Xiong   +9 more
wiley   +1 more source

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

open access: yesBMC Pregnancy Childbirth
Thomas J   +8 more
europepmc   +1 more source

Tissue Damage in Rheumatoid Arthritis Is Genetically Linked to Low Peptidylglycine Alpha‐Amidating Monooxygenase Activity in Synovial Fibroblasts

open access: yesArthritis &Rheumatology, EarlyView.
Objective Both susceptibility to, and severity of, rheumatoid arthritis (RA) is associated with the rs26232 C allele. Our primary aim was to identify the biologic mechanism underlying this association. Methods Expression of surrounding genes was compared among rs26232 genotypes.
Kevin J. Sheridan   +12 more
wiley   +1 more source

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