De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement.

Autor: Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Ma M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Mao X; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China; Department of Medical Genetics, Maternal and Child Health Hospital of Hunan Province, Changsha, Hunan 410008, China., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Jankovic J; Parkinson's Disease Center and Movement Disorders Clinic, Department of Neurology, Baylor College of Medicine, Houston, TX 77030, USA., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Bartley JA; Loma Linda University Children's Hospital, Loma Linda, CA 92354, USA., Wang X; Department of Pediatrics, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi 710004, China., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Beleza-Meireles A; Clinical Genetics Department, St Michael's Hospital, University Hospitals Bristol and Weston, Bristol BS1 3NU, UK., Chauhan J; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds LS7 4SA, UK., Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Li M; Invitae, San Francisco, CA 94103, USA., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA., Prescott K; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds LS7 4SA, UK., Amin S; Paediatric Neurology Department, Bristol Royal Pediatric Hospital, University Hospitals Bristol and Weston, Bristol BS1 3NU, UK., Davies G; University of Bristol, Bristol BS8 1QU, UK., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA., Dai Y; National Health Commission Key Laboratory for Birth Defect Research and Prevention, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan 410008, China; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China. Electronic address: daiyuwei_1996@163.com., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: hbellen@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2022 Oct 06; Vol. 109 (10), pp. 1932-1943.

Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.

Autor: Lee B; 1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA [2] Howard Hughes Medical Institute, Chevy Chase, Maryland, USA., Diaz GA; Icahn School of Medicine at Mount Sinai, New York, New York, USA., Rhead W; The Medical College of Wisconsin, Milwaukee, Wisconsin, USA., Lichter-Konecki U; Children's National Medical Center, Washington, DC, USA., Feigenbaum A; The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Berry SA; University of Minnesota, Minneapolis, Minnesota, USA., Le Mons C; National Urea Cycle Disorders Foundation, Pasadena, California, USA., Bartley JA; Miller Children's Hospital, Long Beach, California, USA., Longo N; University of Utah, Salt Lake City, Utah, USA., Nagamani SC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Berquist W; Stanford University, Palo Alto, California, USA., Gallagher R; Children's Hospital Colorado, Aurora, Colorado, USA., Bartholomew D; Nationwide Children's Hospital, Columbus, Ohio, USA., Harding CO; Oregon Health & Science University, Portland, Oregon, USA., Korson MS; Tufts Medical Center, Boston, Massachusetts, USA., McCandless SE; University Hospitals Case Medical Center and Case Western Reserve University, Cleveland, Ohio, USA., Smith W; Maine Medical Center, Portland, Maine, USA., Cederbaum S; University of California, Los Angeles, Los Angeles, California, USA., Wong D; University of California, Los Angeles, Los Angeles, California, USA., Merritt JL 2nd; University of Washington, Seattle, Washington, USA., Schulze A; The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada., Vockley J, Kronn D; Westchester Medical Center, Westchester, New York, USA., Zori R; University of Florida, Gainesville, Florida, USA., Summar M; Children's National Medical Center, Washington, DC, USA., Milikien DA; Accudata Solutions, Lafayette, California, USA., Marino M; Tufts Medical Center, Boston, Massachusetts, USA., Coakley DF; Hyperion Therapeutics, Brisbane, California, USA., Mokhtarani M; Hyperion Therapeutics, Brisbane, California, USA., Scharschmidt BF; Hyperion Therapeutics, Brisbane, California, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2015 Jul; Vol. 17 (7), pp. 561-8. Date of Electronic Publication: 2014 Dec 11.

Fluconazole-induced congenital anomalies in three infants.

Autor: Pursley TJ; Department of Medicine, Loma Linda University School of Medicine, California 92354, USA., Blomquist IK, Abraham J, Andersen HF, Bartley JA

Publikováno v: Clinical infectious diseases : an official publication of the Infectious Diseases Society of America [Clin Infect Dis] 1996 Feb; Vol. 22 (2), pp. 336-40.

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Ecological Consequences of Food Limitation for Adult Mantids (Tenodera ardifolia sinensis Saussure)

Autor: Eisenberg Rm, Hurd Le, Bartley Ja

Publikováno v: American Midland Naturalist. 106:209

Comparative studies between adult mantids (Tenodera ardifolia sinensis) in field populations and cohorts maintained in the laboratory on ad lib. diets suggest that females in field populations were food-limited. Food limitation apparently occurred in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::600eca2a65a3055e47e68df3a6ca1bde
https://doi.org/10.2307/2425157