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Baylor researchers expand diagnosis for Xia-Gibbs Syndrome

Baylor researchers expand diagnosis for Xia-Gibbs Syndrome
miragenews.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from miragenews.com Daily Mail and Mail on Sunday newspapers.

United States , Wofford Cain , Adamw Hansen , Kirsty Mcwalter , Qingchang Meng , Michael Khayat , Varuna Chander , Jennifer Friedman , Shoudong Li , Jessica Omark Oshea , Francish Sansbury , Richard Gibbs , Jilla Rosenfeld , Jamesr Lupski , Claudiaal Ruivenkamp , Emiliak Bijlsma , Jennifere Posey , Moez Dawood , Laura Cross , Michael Wangler , David Murdock , Yunyun Jiang , Human Genome Sequencing Center , Leiden University Medical Center , University Hospital Of Wales , Rady Children Institute For Genomic Medicine ,

Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder

Study uncovers mutations in Polycomb group gene as underlying cause of novel neurological disorder
A multi-institutional study has discovered spontaneous mutations in RNF2 (RING2) gene as the underlying cause of a novel neurological disorder. This Undiagnosed Diseases Network (UDN) study was led by Dr. Shinya Yamamoto, investigator at the Jan and Dan Duncan Neurological Research Institute (NRI) at Texas Children s Hospital and assistant professor at Baylor College of Medicine, and Dr. Vandana Shashi at Duke University Medical Center.
Using a combination of comprehensive clinical tests, trio genome sequencing and functional studies in the fruit flies, and global gene matchmaking efforts, the teams found loss-of-function variants in RNF2 gene disrupt normal neuronal development and function that likely resulted in a wide gamut of symptoms from severe intellectual disabilities, hypotonia, impaired motor skills, epilepsy, growth retardation, seizures and feeding difficulties i ....

United States , Baylor College Of Medicine , Shinya Yamamoto , Michael Wangler , Hugo Bellen , Emily Henderson , Diseases Network , Baylor Hopkins Center , Dan Duncan Neurological Research Institute , Duke University , Vandana Shashi At Duke University Medical Center , Undiagnosed Diseases Network , Texas Children , Baylor College , Vandana Shashi , Duke University Medical , Human Molecular , National Institutes , Mendelian Genomics , Organisms Screening Core , ஒன்றுபட்டது மாநிலங்களில் , பேலர் கல்லூரி ஆஃப் மருந்து , மைக்கேல் வாங்கிலேர் , எமிலி ஹென்டர்சன் , நோய்கள் வலைப்பின்னல் , பேலர் ஹாப்கின்ஸ் மையம் ,

A novel neurological disorder associated with the Polycomb complex identified

A novel neurological disorder associated with the Polycomb complex identified
eurekalert.org - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from eurekalert.org Daily Mail and Mail on Sunday newspapers.

United States , Baylor College Of Medicine , Shinya Yamamoto , Claudai Ravelli , Venkata Hemajani Bhavana , Joan Jasien , Sharayu Jangam , Kelly Schoch , Hospitalier Pitie Salpetiere , Cyril Mignot , Sujay Kansagra , Michael Wangler , Hugo Bellen , Boris Keren , Duke University School Of Medicine , Baylor Hopkins Center , National Institutes Of Health , Diseases Network , Dan Duncan Neurological Research Institute , Duke University , Howard Hughes Medical Institute , Vandana Shashi At Duke University Medical Center , Undiagnosed Diseases Network , Texas Children , Baylor College , Vandana Shashi ,

Middle and high school students shine at the 2021 Chicago Architecture Biennial Student Ideas Competition

Middle and high school students shine at the 2021 Chicago Architecture Biennial Student Ideas Competition
archinect.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from archinect.com Daily Mail and Mail on Sunday newspapers.

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