Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function.

Autor: Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA., Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany.; Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany., Porter HM; Children's National Hospital, Rare Disease Institute, Washington, District of Columbia, USA., Izadi M; Division of Genomics and Translational Medicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA., Lacassie Y; Department of Pediatrics, Louisiana State University Health Sciences Center, Head Division of Clinical Genetics and Dept. of Genetics Children's Hospital 1986-2016, New Orleans, Los Angeles, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Khan S; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA., Ali TA; Division of Genomics and Translational Medicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan., Khan SA; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan., Muhammad N; Department of Biotechnology and Genetic Engineering, Kohat University of Science & Technology, Kohat, Khyber Pakhtunkhwa, Pakistan., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics Laboratories, Houston, Texas, USA., Haymon ML; Children Hospital New Orleans Louisiana, Pediatric Radiology, Tulane Associate Professor of Radiology, New Orleans, Los Angeles, USA., Rüschendorf F; Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany., Kong IK; Department of Animal Sciences, Division of Applied Life Science (BK21 Four), Gyeongsang National University, Jinju, South Korea., Schnapp L; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany., Shur N; Children's National Hospital, Rare Disease Institute, Washington, District of Columbia, USA., Chorich L; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, USA., Layman L; Section of Reproductive Endocrinology, Infertility & Genetics, Department of Obstetrics and Gynecology, Department of Neuroscience and Regenerative Medicine, Medical College of Georgia, Augusta University, Augusta, USA., Haaf T; Institute of Human Genetics, Julius Maximilians University Würzburg, Würzburg, Germany., Pourkarimi E; Division of Genomics and Translational Medicine, College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar., Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.

Publikováno v: Human mutation [Hum Mutat] 2022 Oct; Vol. 43 (10), pp. 1472-1489. Date of Electronic Publication: 2022 Jul 21.

Virilizing para-adrenocortical adenoma associated with idiopathic-acquired generalized anhidrosis in an adolescent girl.

Autor: Gumus P; Division of Pediatric Endocrinology, Louisiana State University Health Sciences Center and Children's Hospital, New Orleans, LA, USA., Luquette M, Haymon ML, Valerie E, Morales J, Vargas A

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2011; Vol. 24 (3-4), pp. 233-5.