E-LIB Suche - Ergebnisse für: Amanda Pritchard

1

P266: Trisomy 5p: Long recognized, rarely published:

Kim, Gabriela ; Lee, Kristen ; Pritchard, Amanda
Genetics in Medicine Open. 2 (2024) - p. 101162 , 2024

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

2

P002: Increased identification of symptom-free males with p..:

Beil, Adelyn ; Pritchard, Amanda ; Ames, Elizabeth
Genetics in Medicine Open. 1 (2023) 1 - p. 100012 , 2023

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

3

P038: Hypoglycemia as an initial presentation of mitochondr..:

Sunde, Kiri ; Pritchard, Amanda
Genetics in Medicine Open. 1 (2023) 1 - p. 100048 , 2023

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

4

eP217: Ophthalmology genetics clinic in the times of COVID-..:

Pritchard, Amanda ; Beil, Adelyn ; Innis, Jeffrey.
Genetics in Medicine. 24 (2022) 3 - p. S135 , 2022

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

5

Further description of two patients with biallelic variants..:

Kortbawi, Hannah ; Ames, Elizabeth ; Pritchard, Amanda...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2479-2484 , 2022

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

6

Quality Improvement: Supporting a hospital in difficulty: ..:

Leach, Richard ; Banerjee, Sandip ; Beer, Gail...
Future Healthcare Journal. 6 (2019) 1 - p. 67-75 , 2019

Link: https://doi.org/10.7861/..

7

ATYPICALLY MILD ETHYLMALONIC ENCEPHALOPATHY EXPANDS PHENOTY..:

Sloan-Heggen, Christina ; Kashima, Daniel ; Gottlieb-Smith, Rachel.
Molecular Genetics and Metabolism. 138 (2023) 3 - p. 107489 , 2023

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

8

Design and Outcomes of a Novel Multidisciplinary Ophthalmic..:

Parekh, Bela ; Beil, Adelyn ; Blevins, Bridget...
Genes. 14 (2023) 3 - p. 726 , 2023

Link: https://doi.org/10.3390/..

9

An atypically mild case of ethylmalonic encephalopathy with..:

Kashima, Daniel T. ; Sloan‐Heggen, Christina M. ; Gottlieb‐Smith, Rachel J..
American Journal of Medical Genetics Part A. 191 (2023) 6 - p. 1614-1618 , 2023

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

10

P036: Atypically mild ethylmalonic encephalopathy expands p..:

Sloan-Heggen, Christina ; Kashima, Daniel ; Gottlieb-Smith, Rachel.
Genetics in Medicine Open. 1 (2023) 1 - p. 100046 , 2023

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

11

TELO2‐related syndrome (You‐Hoover‐Fong syndrome): Descript..:

Albokhari, Daniah ; Pritchard, Amanda Barone ; Beil, Adelyn...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1261-1272 , 2023

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

12

eP249: Practical implementation of inpatient rapid comprehe..:

Sloan-Heggen, Christina ; Pritchard, Amanda Barone ; Barks, John...
Genetics in Medicine. 24 (2022) 3 - p. S158 , 2022

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

13

Interstitial deletion 4p15.32p16.1 and complex chromoplexy ..:

Li, Dong ; Strong, Alanna ; Hou, Cuiping...
Molecular Cytogenetics. 15 (2022) 1 - p. , 2022

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

14

Inborn error of metabolism patients after liver transplanta..:

Pritchard, Amanda Barone ; Izumi, Kosuke ; Payan‐Walters, Irma...
American Journal of Medical Genetics Part A. 188 (2022) 5 - p. 1443-1447 , 2022

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

15

Trainee perspectives of COVID-19 impact on medical genetics..:

Pritchard, Amanda Barone ; Sloan-Heggen, Christina ; Keegan, Catherine E..
Genetics in Medicine. 23 (2021) 5 - p. 956-962 , 2021

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