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Niederhoffer, Karen Y.
27
results:
Search for persons
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Format
Online (27)
Mediatypes
Articles (Online) (19)
OpenAccess-fulltext (8)
Sorted by: Relevance
Sorted by: Year
?
1
USP27Xvariants underlying X-linked intellectual disability ..:
Koch, Intisar
;
Slovik, Maya
;
Zhang, Yuling
...
Life Science Alliance. 7 (2024) 3 - p. e202302258 , 2024
Link:
https://doi.org/10.26508..
?
2
Extra‐cardiac diagnoses and postnatal outcomes of fetal tet..:
Sharma, Rishav
;
Niederhoffer, Karen Y.
;
Caluseriu, Oana
...
Prenatal Diagnosis. 42 (2022) 2 - p. 260-266 , 2022
Link:
https://doi.org/10.1002/..
?
3
Diagnostic yield of clinical exome sequencing in adulthood ..:
Mainali, Apurba
;
Athey, Taryn
;
Bahl, Shalini
...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 510-517 , 2022
Link:
https://doi.org/10.1002/..
?
4
Prenatal Genetic Testing in the Era of Next Generation Sequ..:
Almubarak, Asra
;
Zhang, Dan
;
Kosak, Mackenzie
...
Genes. 13 (2022) 11 - p. 2019 , 2022
Link:
https://doi.org/10.3390/..
?
5
A rare homozygous missense GDF2 (BMP9) mutation causing PAH..:
Upton, Paul
;
Richards, Susan
;
Bates, Angela
...
American Journal of Medical Genetics Part A. 191 (2022) 1 - p. 228-233 , 2022
Link:
https://doi.org/10.1002/..
?
6
Prenatal features, associated co‐morbidities and clinical c..:
McBrien, Angela
;
Caluseriu, Oana
;
Niederhoffer, Karen Y
.
Prenatal Diagnosis. 41 (2020) 1 - p. 15-20 , 2020
Link:
https://doi.org/10.1002/..
?
7
Successful umbilical cord blood hematopoietic stem cell tra..:
Mallhi, Kanwaldeep
;
Dix, David B.
;
Niederhoffer, Karen Y.
..
Pediatric Transplantation. 20 (2016) 7 - p. 1004-1007 , 2016
Link:
https://doi.org/10.1111/..
?
8
Diagnosis of Van den Ende–Gupta syndrome: Approach to the M..:
Niederhoffer, Karen Y.
;
Fahiminiya, Somayyeh
;
Eydoux, Patrice
...
American Journal of Medical Genetics Part A. 170 (2016) 9 - p. 2310-2321 , 2016
Link:
https://doi.org/10.1002/..
?
9
Beckwith–Wiedemann syndrome in sibs discordant for IC2 meth..:
Niederhoffer, Karen Y.
;
Peñaherrera, Maria
;
Pugash, Denise
...
American Journal of Medical Genetics Part A. 158A (2012) 7 - p. 1662-1669 , 2012
Link:
https://doi.org/10.1002/..
?
10
USP27X variants underlying X-linked intellectual disability..:
Koch, Intisar
;
Slovik, Maya
;
Zhang, Yuling
...
https://pure.eur.nl/en/publications/70c6f98b-8260-4b25-a729-d560348ed282. , 2024
Link:
https://pure.eur.nl/en/p..
?
11
USP27X variants underlying X-linked intellectual disability..:
Koch, Intisar
;
Slovik, Maya
;
Zhang, Yuling
...
https://cris.maastrichtuniversity.nl/en/publications/3bed8fc9-423a-4ad0-a46d-25898f884d01. , 2024
Link:
https://cris.maastrichtu..
?
12
USP27X variants underlying X-linked intellectual disability..:
Koch, Intisar
;
Slovik, Maya
;
Zhang, Yuling
...
https://discovery.dundee.ac.uk/en/publications/87c7396b-34bf-4609-bea6-9be94de6052f. , 2024
Link:
https://discovery.dundee..
?
13
USP27X variants underlying X-linked intellectual disability..:
Koch, Intisar
;
Slovik, Maya
;
Zhang, Yuling
...
https://pure.eur.nl/en/publications/70c6f98b-8260-4b25-a729-d560348ed282. , 2024
Link:
https://pure.eur.nl/en/p..
?
14
Detailed Clinical and Psychological Phenotype of the X-link..:
Bain, Jennifer M
;
Thornburg, Olivia
;
Pan, Cheryl
...
info:eu-repo/semantics/altIdentifier/wos/WOS:000656645800019. , 2021
Link:
http://hdl.handle.net/24..
?
15
Detailed Clinical and Psychological Phenotype of the X-link..:
Bain, Jennifer M
;
Thornburg, Olivia
;
Pan, Cheryl
...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7954461/. , 2021
Link:
http://hdl.handle.net/10..
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