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.

Use of the recto-sigmoid index to diagnose Hirschsprung's disease.

Autor: Garcia R; Department of Pediatrics, Division of Gastroenterology, State University Health Sciences Center, Baton Rouge, Louisiana, USA., Arcement C, Hormaza L, Haymon ML, Ward K, Velasco C, Correa H, Congeni JD, Brown R, Tyson P, Udall J, Schmidt-Sommerfeld E

Publikováno v: Clinical pediatrics [Clin Pediatr (Phila)] 2007 Jan; Vol. 46 (1), pp. 59-63.

Suppressed hepatic uptake of Ga-67 after chemotherapy for non-Hodgkin's lymphoma.

Autor: Thakore K; Department of Radiology, Children's Hospital, New Orleans, LA 70118, USA., Patel S, Luttrell CA, Haymon ML, Ward K, Smith J

Publikováno v: Clinical nuclear medicine [Clin Nucl Med] 1996 Jan; Vol. 21 (1), pp. 65-6.

Uptake of In-111 leukocytes in soft tissue metastases from adenocarcinoma of lung : Haymon ML, Neely HR. Department of Nuclear Medicine, Ochsner Medical Institutions, 1516 Jefferson Highway, New Orleans, LA 70121. Clin Nucl Med 1992;17:903–904

Publikováno v: In Lung Cancer 1993 10(1):137-137