Results 111 to 120 of about 253,124 (183)

Riley-Day Syndrome (congenital familial dysautonomia). [PDF]

, 1965
C G Keith
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IKBKAP mRNA in Peripheral Blood Leukocytes: A Molecular Marker of Gene Expression and Splicing in Familial Dysautonomia [PDF]

, 2008
Gabrielle Gold‐von Simson, Maire Leyne, James Mull, Linda Rolnitzky, Judith D. Goldberg, Dena Berlin, Felicia B. Axelrod, Susan A. Slaugenhaupt   +7 more
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Transcranial Doppler sonography during head up tilt suggests preserved central sympathetic activation in familial dysautonomia [PDF]

, 2002
Max J. Hilz
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Familial dysautonomia [PDF]

Anaesthesia, 1983
R.G. Cox, E. Sumner
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Identification of the first non‐Jewish mutation in familial Dysautonomia [PDF]

, 2003
Maire Leyne, James Mull, Sandra Gill, Math P. Cuajungco, Carole Oddoux, Anat Blumenfeld, Channa Maayan, James F. Gusella, Felicia B. Axelrod, Susan A. Slaugenhaupt   +9 more
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AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia [PDF]

Anil Chekuri, Krishnakanth Kondabolu, Emily Kirchner, Swanand Koli, Marie‐Christine Chagnon, Drenushe Krasniqi-Vanmeter, Marc‐Henri Stern, Jessica Bolduc, Giulia Romano, Luk H. Vandenberghe, Elisabetta Morini, Susan A. Slaugenhaupt, Susan A. Slaugenhaupt   +12 more
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Aspects of spinal deformity in familial dysautonomia (Riley-Day syndrome) [PDF]

, 1997
L. Kaplan, J. Y. Marguilies, Avishag Kadari, Yizhar Floman, Robin Gc   +4 more
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Bone Mineral Density and Trabecular Bone Score in Children, Adolescents and Young Adults with Familial Dysautonomia. [PDF]

Calcif Tissue Int
Bar-Aluma BE, Porges R, Tripto-Shkolnik L, Keler S, Gruber N, Dagan A, Modan-Moses D, Levy-Shraga Y.   +7 more
europepmc   +1 more source

Obstructive Sleep-Disordered Breathing Is More Common than Central in Mild Familial Dysautonomia [PDF]

, 2016
Max J. Hilz, Sebastian Moeller, Susanne Buechner, Hanna Czarkowska, Indu Ayappa, Felicia B. Axelrod, David M. Rapoport   +6 more
openalex   +1 more source

Whole genome analysis of an extended pedigree with Prader-Willi Syndrome, Hereditary Hemochromatosis, Familial Dysautonomia, Tourette Syndrome and other illnesses [PDF]

, 2014
Fang Han, Gholson J. Lyon
openalex