Results 121 to 130 of about 52,020 (257)
Regulating Sperm Donation: Why Requiring Exposed Donation Is Not the Answer [PDF]
, 2009 [...] the risk of incest and consanguinity11 are prevalent with anonymous donation12 since there is no monitoring of the number of live births per donor.
Pi, Vanessa L.
core +1 more source
Angewandte Chemie International Edition, EarlyView.The pyrrolysyl‐tRNA synthetase dimer exhibits an alternating mode of action of its monomers within its catalytic cycle, which is realized upon occupation of secondary binding sites located at the intermonomer interfaces outside the catalytic binding site.
Jessica Dröden +6 more
wiley +1 more source
Fraser of cryptophthalmosis syndrome: A case report [PDF]
, 2004 Fraser or cryptophthalmos syndrome is a rare autosomal recessive disorder characterized by major features such as cryptophthalmos, syndactyly, and abnormal genitalia. Consanguinity is reported in 15-24.8% of the cases.
Adibi, B. +3 more
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Familial Mediterranean fever in northwest of Iran (Ardabil): The first global report from Iran [PDF]
Familial Mediterranean fever (FMF), which is the prototype of the hereditary periodic fever syndromes, is common in the countries around the Mediterranean Sea. Considering its geographical position in the northwest of Iran, with its population of Turkish
امامی, دینا +10 more
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Oculocutaneous Albinism associated with Axenfeld’s Anomaly : Three case reports
Sultan Qaboos University Medical Journal, 2010 Oculocutaneous albinism and anterior mesodermal dysgenesis are well-known heritable conditions, but their occurrence in association has only been rarely reported.
B R Keshav +2 more
doaj
Minimum Age Difference as a Requisite for Adoption [PDF]
, 1966 Recent incidents of abortive uses of adoption statutes have pointed up the possible need for a healthy change in our adoption laws: the inclusion of a required age difference between adopter and adoptee. The author urges that such a statutory requirement
Wadlington, Walter J., III
core +1 more source
Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak
Animal 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
The acrocallosal syndrome: A case report and literature survey [PDF]
, 2009 Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey +2 more
core +1 more source
Arthritis &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
Arthritis &Rheumatology, Accepted Article.Objectives Both susceptibility to, and severity of, rheumatoid arthritis (RA) is associated with the rs26232 C allele. Our primary aim was to identify the biological mechanism underlying this association. Methods Expression of surrounding genes was compared between rs26232 genotypes.
Kevin J. Sheridan +12 more
wiley +1 more source