E-LIB Suche - Ergebnisse für: Berry, Gerard T

1

Exome and genome sequencing in a heterogeneous population o..:

Pucel, Jenna ; Briere, Lauren C. ; Reuter, Chloe...
Genetics in Medicine. 26 (2024) 6 - p. 101115 , 2024

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

2

LUSTR: a new customizable tool for calling genome-wide germ..:

Lu, Jinfeng ; Toro, Camilo ; Adams, David R....
BMC Genomics. 25 (2024) 1 - p. , 2024

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

3

Lipodystrophy in methylmalonic acidemia associated with ele..:

Manoli, Irini ; Sysol, Justin R. ; Head, PamelaSara E....
JCI Insight. 9 (2024) 4 - p. , 2024

Link: https://doi.org/10.1172/..

4

Frontiers in congenital disorders of glycosylation consorti..:

Lam, Christina ; Scaglia, Fernando ; Berry, Gerard T....
Molecular Genetics and Metabolism. 142 (2024) 4 - p. 108509 , 2024

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

5

Impact of supplementation with L-citrulline/arginine after ..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Molecular Genetics and Metabolism. 141 (2024) 3 - p. 108112 , 2024

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

6

Severity-adjusted evaluation of liver transplantation on he..:

Posset, Roland ; Garbade, Sven F. ; Gleich, Florian...
Genetics in Medicine. 26 (2024) 4 - p. 101039 , 2024

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

7

Participation in a national diagnostic research study: asse..:

Rosenfeld, Lindsay E. ; LeBlanc, Kimberly ; Nagy, Anna...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

8

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS ..:

Schiff, Manuel ; Schwahn, Bernd C. ; Chabrol, Brigitte...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107475 , 2023

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

9

Continuing a search for a diagnosis: the impact of adolesce..:

Miller, Ilana M. ; Yashar, Beverly M. ; Acosta, Maria T....
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023

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

10

The treatment of biochemical genetic diseases: From substra..:

Vos, E. Naomi ; Demirbas, Didem ; Mangel, Matthew...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107693 , 2023

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

11

MaP NATURAL HISTORY STUDY: CLINICAL AND BIOMARKER FINDINGS ..:

Schwahn, Bernd C. ; Berry, Gerard T. ; Santra, Saikat...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107476 , 2023

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

12

Galactose epimerase deficiency: lessons from the GalNet reg..:

Derks, Britt ; Demirbas, Didem ; Arantes, Rodrigo R....
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

13

The development of end stage renal disease in two patients ..:

Tiwary, Henna ; Hecht, Leah E. ; Brucker, William J...
JIMD Reports. 63 (2022) 2 - p. 131-136 , 2022

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

14

A neurodevelopmental disorder caused by a novel de novo SVA..:

Zhao, Boxun ; Madden, Jill A. ; Lin, Jasmine...
European Journal of Human Genetics. 30 (2022) 9 - p. 1083-1087 , 2022

Link: https://doi.org/10.1038/..

15

Genetic Determinants of Sudden Unexpected Death in Pediatri..:

Koh, Hyun Yong ; Haghighi, Alireza ; Keywan, Christine...
Genetics in Medicine. 24 (2022) 4 - p. 839-850 , 2022

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