Agency
National Institute of Health (NIH)
Institute
National Institute of General Medical Sciences (NIGMS)
Type
Institutional National Research Service Award (T32)
Project #
5T32GM007471-20
Application #
2166584
Study Section
Genetic Basis of Disease Review Committee (GBD)
Project Start
1977-07-01
Project End
1997-06-30
Budget Start
1996-07-01
Budget End
1997-06-30
Support Year
20
Fiscal Year
1996
Total Cost
Indirect Cost
Name
Johns Hopkins University
Department
Pediatrics
Type
Schools of Medicine
DUNS #
045911138
City
Baltimore
State
MD
Country
United States
Zip Code
21218
Bishop, Juliet Chhay; Britton, Jacquelyn Francis; Murphy, Anne M et al. (2018) Juvenile Idiopathic Arthritis Associated with Combined JP-HHT Syndrome: A Novel Phenotype Associated with a Novel Variant in SMAD4. J Pediatr Genet 7:78-82
Muriello, Michael; Clemens, Julia L; Mu, Weiyi et al. (2018) Pain and sleep quality in children with non-vascular Ehlers-Danlos syndromes. Am J Med Genet A 176:1858-1864
Peroutka, Christina; Salas, Jacqueline; Britton, Jacquelyn et al. (2018) Severe Neonatal Manifestations of Infantile Liver Failure Syndrome Type 1 Caused by Cytosolic Leucine-tRNA Synthetase Deficiency. JIMD Rep :
Bishop, Juliet Chhay; Blakemore, Karin; Vricella, Luca et al. (2018) Prenatal ABO/RHD Genotyping: A New Paradigm to Allow for Fresh Whole Blood for Cardiopulmonary Bypass in the Immediate Newborn Period. Fetal Diagn Ther 44:156-159
Lu, Jacqueline G; Bishop, Juliet; Cheyette, Sarah et al. (2018) A novel PRRT2 pathogenic variant in a family with paroxysmal kinesigenic dyskinesia and benign familial infantile seizures. Cold Spring Harb Mol Case Stud 4:
Roshan Lal, Tamanna; Sidransky, Ellen (2017) The Spectrum of Neurological Manifestations Associated with Gaucher Disease. Diseases 5:
Borger, Daniel K; McMahon, Benjamin; Roshan Lal, Tamanna et al. (2017) Induced pluripotent stem cell models of lysosomal storage disorders. Dis Model Mech 10:691-704
Zhao, Xixi; Li, Angela; Soni, Madhu et al. (2017) McArdle disease: a ""pediatric"" disorder presenting in an adult with acute kidney injury. CEN Case Rep 6:156-160
Ramesh, Anirudh; Diaz, Johanna; Nogee, Lawrence et al. (2017) Premature Identical Twin Neonates With Sleep Apnea. Clin Pediatr (Phila) 56:1075-1078
Johnston, Jennifer J; Lee, Chanjae; Wentzensen, Ingrid M et al. (2017) Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral-facial-digital overlap syndrome. Cold Spring Harb Mol Case Stud 3:

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