Results 91 to 100 of about 3,209,481 (277)
Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males [PDF]
Han N. Lim
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Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders+11 more
wiley +1 more source
The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue+16 more
wiley +1 more source
Reproductive behaviour in the male cricket Gryllus bimaculatus DeGeer. I. Structure and function of the genitalia [PDF]
Mikihiko Kumashiro, Masaki Sakai
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ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy+15 more
wiley +1 more source
A morphological study of the male genitalia of various genera of bees
David E. Beck
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Down Syndrome in Maternity Care: Mothers' Experiences of Prenatal Screening
ABSTRACT Prenatal screening for Down syndrome (DS) is offered to expectant parents receiving antenatal care in many countries, with an emphasis on providing parents with the opportunity to make informed choices about their pregnancy. We examined experiences of prenatal screening among mothers of children with DS living in England, Scotland, or Wales ...
Tamar Rutter+5 more
wiley +1 more source
Correction to: Unraveling the Genetic Basis for the Rapid Diversification of Male Genitalia between Drosophila Species. [PDF]
europepmc +1 more source
A study of the male genitalia of certain Anthidiine bees
Ruth Isensee
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