I agree that this site is using cookies. You can find further informations
here
.
X
Login
My folder (
0
)
Home
About us
Home About us
Our history
Profile
Press & public relations
Friends
The library in figures
Exhibitions
Projects
Training, internships, careers
Films
Services & Information
Home Services & Information
Lending and interlibrary loans
Returns and renewals
Training and library tours
My Account
Library cards
New to the library?
Download Information
Opening hours
Learning spaces
PC, WLAN, copy, scan and print
Catalogs and collections
Home Catalogs and Collections
Rare books and manuscripts
Digital collections
Subject Areas
Our sites
Home Our sites
Central Library
Law Library (Juridicum)
BB Business and Economics (BB11)
BB Physics and Electrical Engineering
TB Engineering and Social Sciences
TB Economics and Nautical Sciences
TB Music
TB Art & Design
TB Bremerhaven
Contact the library
Home Contact the library
Staff Directory
Open access & publishing
Home Open access & publishing
Reference management: Citavi & RefWorks
Publishing documents
Open Access in Bremen
Show Desktop-Version
Toggle navigation
Pritchard, Amanda Barone
49
results:
Search for persons
X
Format
Online (49)
Mediatypes
Articles (Online) (42)
OpenAccess-fulltext (7)
Sorted by: Relevance
Sorted by: Year
?
1
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/..
?
2
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/..
?
3
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/..
?
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
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/..
?
6
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/..
?
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
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/..
?
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
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/..
?
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/..
1-15