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Pritchard, Amanda
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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/..
 
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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/..
 
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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/..
 
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4

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/..
 
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5

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/..
 
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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/..
 
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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/..
 
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8

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/..
 
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9

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/..
 
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10

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/..
 
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11

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/..
 
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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/..
 
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13

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/..
 
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14

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/..
 
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15

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/..
 
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