E-LIB Suche - Ergebnisse für: Gotway, Garrett

1

P180: Biallelic loss-of function variants in LDB3 deleting ..:

Gotway, Garrett ; Baez Hernandez, Nathanya ; Uhles, Crescenda
Genetics in Medicine Open. 1 (2023) 1 - p. 100209 , 2023

Link: https://doi.org/10.1016/..

2

HYPERCHLOREMIC ACIDOSIS IN A PATIENT WITH ARGININOSUCCINATE..:

Gotway, Garrett ; Hudnall, Julianna
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107418 , 2023

Link: https://doi.org/10.1016/..

3

Infigratinib in children with achondroplasia: the PROPEL an..:

Savarirayan, Ravi ; De Bergua, Josep Maria ; Arundel, Paul...
Therapeutic Advances in Musculoskeletal Disease. 14 (2022) - p. 1759720X2210848 , 2022

Link: https://doi.org/10.1177/..

4

Chromosomal Microarray Reinterpretation: Applications to Pe..:

Shi, Guanglu ; Xu, Jing ; Barnes, Shirelle F....
The Journal of Pediatrics. 243 (2022) - p. 219-223 , 2022

Link: https://doi.org/10.1016/..

5

PSAT106 Infigratinib in Children with Achondroplasia: Desig..:

Muslimova, Elena ; De Bergua, Josep Maria ; Savarirayan, Ravi...
Journal of the Endocrine Society. 6 (2022) Supplement_1 - p. A633-A633 , 2022

Link: https://doi.org/10.1210/..

6

Arginase 1 Deficiency in Patients Initially Diagnosed with ..:

McNutt, Markey C. ; Foreman, Nathan ; Gotway, Garrett
Movement Disorders Clinical Practice. 10 (2022) 1 - p. 109-114 , 2022

Link: https://doi.org/10.1002/..

7

Reinterpretation of microarray copy number variants of unce..:

Shi, Guanglu ; Xu, Jing ; Figueroa, Shirelle..
Molecular Genetics and Metabolism. 132 (2021) - p. S282-S283 , 2021

Link: https://doi.org/10.1016/..

8

The roles of homocysteinemia and methylmalonic acidemia in ..:

Wood, William D. ; Elmaghrabi, Ayah ; Gotway, Garrett.
Pediatric Nephrology. 37 (2021) 6 - p. 1415-1418 , 2021

Link: https://doi.org/10.1007/..

9

Reinterpretation of Chromosomal Microarrays with Detailed M..:

Farooqi, Midhat S. ; Figueroa, Shirelle ; Gotway, Garrett...
The Journal of Pediatrics. 222 (2020) - p. 180-185.e1 , 2020

Link: https://doi.org/10.1016/..

10

Clinical Exome Studies Have Inconsistent Coverage:

Gotway, Garrett ; Crossley, Eric ; Kozlitina, Julia...
Clinical Chemistry. 66 (2019) 1 - p. 199-206 , 2019

Link: https://doi.org/10.1093/..

11

26: Incidence and Clinical Significance of Small Copy Numbe..:

Farooqi, Midhat S. ; Figueroa, Shirelle ; Gotway, Garrett...
American Journal of Clinical Pathology. 143 (2015) suppl_1 - p. A012-A012 , 2015

Link: https://doi.org/10.1093/..

12

Adult-onset liver disease and hepatocellular carcinoma in S..:

Stender, Stefan ; Chakrabarti, Rima S. ; Xing, Chao...
Molecular Genetics and Metabolism. 116 (2015) 4 - p. 269-274 , 2015

Link: https://doi.org/10.1016/..

13

Mudd's disease (MAT I/III deficiency): a survey of data for..:

Chien, Yin-Hsiu ; Abdenur, Jose E. ; Baronio, Federico...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

14

Genomic Analyses of Patients With Unexplained Early-Onset S..:

Gao, Xiaochong ; Gotway, Garrett ; Rathjen, Karl...
Spine Deformity. 2 (2014) 5 - p. 324-332 , 2014

Link: https://doi.org/10.1016/..

15

Recombinant chromosome 7 in a mosaic 45,X/47,XXX patient:

Tirado, Carlos A. ; Gotway, Garrett ; Torgbe, Emmanuel...
American Journal of Medical Genetics Part A. 158A (2011) 1 - p. 206-214 , 2011

Link: https://doi.org/10.1002/..