E-LIB Suche - Ergebnisse für: Mendelsohn, Bryce A.

1

Neonatal lupus is a novel cause of positive newborn screeni..:

Niehaus, Annie D. ; Mendelsohn, Bryce A. ; Zimmerman, Bree...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1412-1417 , 2023

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

2

Author Correction: Diagnostic yield of pediatric and prenat..:

Slavotinek, Anne ; Rego, Shannon ; Sahin-Hodoglugil, Nuriye...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

3

MT‐ATP6 mitochondrial disease identified by newborn screeni..:

Tise, Christina G. ; Verscaj, Courtney P. ; Mendelsohn, Bryce A....
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1492-1501 , 2023

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

4

IDENTIFYING A MADD-LIKE BIOCHEMICAL IMPOSTER BETTER KNOWN A..:

Stander, Zinandré ; Ammous, Zineb ; Werker, Joanne...
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107494 , 2023

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

5

Neurodevelopmental and other phenotypes recurrently associa..:

Sewani, Soha ; Azamian, Mahshid S. ; Mendelsohn, Bryce A....
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

6

Diagnostic yield of pediatric and prenatal exome sequencing..:

Slavotinek, Anne ; Rego, Shannon ; Sahin-Hodoglugil, Nuriye...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

7

Timing is everything: Clinical courses of Hunter syndrome a..:

Grant, Nathan ; Sohn, Young Bae ; Ellinwood, N. Matthew...
Molecular Genetics and Metabolism Reports. 30 (2022) - p. 100845 , 2022

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

8

A multinational study of acute and long‐term outcomes of Ty..:

Katler, Quinton S. ; Stepien, Karolina M. ; Paull, Nathan...
Journal of Inherited Metabolic Disease. 45 (2022) 6 - p. 1106-1117 , 2022

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

9

Timing is everything in Hunter syndrome: Differential clini..:

Grant, Nathan ; Sohn, Young Bae ; Ellinwood, N. Matthew...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S51 , 2022

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

10

Expanded Carrier Screening and the Complexity of Implementa..:

Mendelsohn, Bryce A.
Obstetrics & Gynecology. 137 (2021) 5 - p. 959-960 , 2021

Link: https://doi.org/10.1097/..

11

Long-term Speech Outcomes of Cleft Palate Repair in Robin S..:

Logjes, Robrecht J. H. ; Upton, Susanna ; Mendelsohn, Bryce A....
Plastic and Reconstructive Surgery - Global Open. 9 (2021) 1 - p. e3351 , 2021

Link: https://doi.org/10.1097/..

12

Application of full-genome analysis to diagnose rare monoge..:

Shieh, Joseph T. ; Penon-Portmann, Monica ; Wong, Karen H. Y....
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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

13

Correction to: Physician-directed genetic screening to eval..:

Haverfield, Eden V. ; Esplin, Edward D. ; Aguilar, Sienna J....
BMC Medicine. 19 (2021) 1 - p. , 2021

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

14

Physician-directed genetic screening to evaluate personal r..:

Haverfield, Eden V. ; Esplin, Edward D. ; Aguilar, Sienna J....
BMC Medicine. 19 (2021) 1 - p. , 2021

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

15

Publisher Correction: Application of full-genome analysis t..:

Shieh, Joseph T. ; Penon-Portmann, Monica ; Wong, Karen H. Y....
npj Genomic Medicine. 6 (2021) 1 - p. , 2021

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