E-LIB Suche - Ergebnisse für: Pritchard, Amanda Barone

1

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/..

2

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/..

3

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/..

4

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/..

5

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/..

6

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/..

7

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/..

8

Persistent dyslipidemia in treatment of lysosomal acid lipa..:

Pritchard, Amanda Barone ; Strong, Alanna ; Ficicioglu, Can
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

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

9

Loss‐of‐function of Endothelin receptor type A results in O..:

Pritchard, Amanda Barone ; Kanai, Stanley M. ; Krock, Bryan...
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 1104-1116 , 2020

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

10

What not to expect when you're expecting: Unusual cases of ..:

Pritchard, Amanda Barone ; Grand, Katheryn ; Hopkins, Maeve...
European Journal of Medical Genetics. 63 (2020) 6 - p. 103895 , 2020

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

11

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/..

12

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/..

13

MN1 C-terminal truncation syndrome is a novel neurodevelopm..:

Mak, Christopher C Y ; Doherty, Dan ; Lin, Angela E...
Brain. 143 (2019) 1 - p. 55-68 , 2019

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

14

Design and Outcomes of a Novel Multidisciplinary Ophthalmic..:

Parekh, Bela ; Beil, Adelyn ; Blevins, Bridget...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048684/. , 2023

Link: http://www.ncbi.nlm.nih...

15

Design and Outcomes of a Novel Multidisciplinary Ophthalmic..:

Bela Parekh ; Adelyn Beil ; Bridget Blevins...
https://www.mdpi.com/2073-4425/14/3/726. , 2023

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