Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function
Lin, Sheng‐Jia, Vona, Barbara, Porter, Hillary M., Izadi, Mahmoud, Huang, Kevin, Lacassie, Yves, Rosenfeld, Jill A., Khan, Saadullah, Petree, Cassidy, Ali, Tayyiba A., Muhammad, Nazif, Khan, Sher A., Muhammad, Noor, Liu, Pengfei, Haymon, Marie‐Louise, Rüschendorf, Franz, Kong, Il‐Keun, Schnapp, Linda, Shur, Natasha, Chorich, Lynn, Layman, Lawrence, Haaf, Thomas, Pourkarimi, Ehsan, Kim, Hyung‐Goo, Varshney, Gaurav K.
Published in Human mutation (01.10.2022)
Published in Human mutation (01.10.2022)
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Virilizing para-adrenocortical adenoma associated with idiopathic-acquired generalized anhidrosis in an adolescent girl
Gumus, Pinar, Luquette, Mark, Louise Haymon, Marie, Valerie, Evans, Morales, Jaime, Vargas, Alfonso
Published in Journal of Pediatric Endocrinology and Metabolism (01.04.2011)
Published in Journal of Pediatric Endocrinology and Metabolism (01.04.2011)
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Severe abdominal pain in 2 teenage girls
Karia, Vijay R, Haymon, Marie-Louise, Espinoza, Luis R, Gedalia, Abraham
Published in Clinical pediatrics (01.05.2011)
Published in Clinical pediatrics (01.05.2011)
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Journal Article
Front Cover, Volume 43, Issue 10
Lin, Sheng‐Jia, Vona, Barbara, Porter, Hillary M., Izadi, Mahmoud, Huang, Kevin, Lacassie, Yves, Rosenfeld, Jill A., Khan, Saadullah, Petree, Cassidy, Ali, Tayyiba A., Muhammad, Nazif, Khan, Sher A., Muhammad, Noor, Liu, Pengfei, Haymon, Marie‐Louise, Rüschendorf, Franz, Kong, Il‐Keun, Schnapp, Linda, Shur, Natasha, Chorich, Lynn, Layman, Lawrence, Haaf, Thomas, Pourkarimi, Ehsan, Kim, Hyung‐Goo, Varshney, Gaurav K.
Published in Human mutation (01.10.2022)
Published in Human mutation (01.10.2022)
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Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
Wood, Kirsten A., Zambrano, Regina M., Cheek, Bradley J., Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C., Lacassie, Yves
Published in Clinical case reports (01.04.2017)
Published in Clinical case reports (01.04.2017)
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TREATMENT OF SUPERIOR VENA CAVA SYNDROME WITH RECOMBINANT TISSUE PLASMINOGEN ACTIVATOR IN A SICKLE CELL PATIENT UNDERGOING BONE MARROW TRANSPLANTATION
Ramdas, Jagadeesh, Haymon, Marie, Ward, Kenneth, Velez, Maria, Yu, Lolie C.
Published in Pediatric hematology and oncology (2001)
Published in Pediatric hematology and oncology (2001)
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Journal Article
Neonatal mucolipidosis type II alpha/beta due to compound heterozygosity for a known and novel GNPTAB mutation, and a concomitant heterozygous change in SERPINF1 inherited from the mother
Wood, Kirsten A, Zambrano, Regina M, Cheek, Bradley J, Arcement, Christopher, Haymon, Marie, Steinkampf, Jessica, Sampath, Srirangan, Hyland, James C, Lacassie, Yves
Published in Clinical case reports (01.04.2017)
Published in Clinical case reports (01.04.2017)
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Report
Suppressed hepatic uptake of Ga-67 after chemotherapy for non-Hodgkin's lymphoma
Thakore, K, Patel, S, Luttrell, C A, Haymon, M L, Ward, K, Smith, J
Published in Clinical nuclear medicine (01.01.1996)
Published in Clinical nuclear medicine (01.01.1996)
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Splenic artery embolization as emergency treatment of splenic rupture in a child with T-cell acute lymphocytic leukemia having t(8;14) translocation
Gardner, Renee V, Warrier, Raj P, Loe, William, Ward, Kenneth, Haymon, Marie, Craver, Randall
Published in Medical and pediatric oncology (01.11.2003)
Published in Medical and pediatric oncology (01.11.2003)
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