E-LIB Suche - Ergebnisse für: Alkhunaizi, Ebba

1

Biallelic variants in TUBGCP6 result in microcephaly and ch..:

Thomas‐Wilson, Amanda ; Schacht, John P. ; Chitayat, David...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1935-1941 , 2023

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

2

45,X/46,XY mosaicism: Clinical manifestations and long term..:

Alkhunaizi, Ebba ; Albrecht, Jenna Plamondon ; Aarabi, Mahmoud...
American Journal of Medical Genetics Part A. 194 (2023) 3 - p. , 2023

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

3

AGAP1-associated endolysosomal trafficking abnormalities li..:

Lewis, Sara A. ; Bakhtiari, Somayeh ; Forstrom, Jacob...
Disease Models & Mechanisms. 16 (2023) 9 - p. , 2023

Link: https://doi.org/10.1242/..

4

Fetal akinesia deformation sequence syndrome associated wit..:

Alkhunaizi, Ebba ; Martin, Nicole ; Jelin, Angie C...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9928776/. , 2023

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

5

AGAP1-associated endolysosomal trafficking abnormalities li..:

Sara A. Lewis ; Somayeh Bakhtiari ; Jacob Forstrom...
http://dmm.biologists.org/content/16/9/dmm049838. , 2023

Link: https://doi.org/10.1242/..

6

eP071: 45,X/46,XY mosaicism: Retrospective study of 100 pat..:

Alkhunaizi, Ebba ; Plamondon, Jenna ; Aarabi, Mahmoud...
Genetics in Medicine. 24 (2022) 3 - p. S47-S48 , 2022

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

7

Semaphorin-Plexin Signaling: From Axonal Guidance to a New ..:

Steele, Jacqueline L. ; Morrow, Michelle M. ; Sarnat, Harvey B....
Pediatric Neurology. 126 (2022) - p. 65-73 , 2022

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

8

Genotype–phenotype correlations and disease mechanisms in P..:

Borgia, Paola ; Baldassari, Simona ; Pedemonte, Nicoletta...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

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

9

Fetal akinesia deformation sequence syndrome associated wit..:

Alkhunaizi, Ebba ; Martin, Nicole ; Jelin, Angie C....
American Journal of Medical Genetics Part A. 191 (2022) 3 - p. 760-769 , 2022

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

10

eP072: Disparities of racial and ethnic minorities in popul..:

Alkhunaizi, Ebba ; Sriharan, Abi ; Chitayat, David
Genetics in Medicine. 24 (2022) 3 - p. S48 , 2022

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

11

Genotype–phenotype correlations and disease mechanisms in P..:

Borgia, Paola ; Baldassari, Simona ; Pedemonte, Nicoletta...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9295491/. , 2022

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

12

Genotype-phenotype correlations and disease mechanisms in P..:

Borgia, Paola ; Baldassari, Simona ; Pedemonte, Nicoletta...
info:eu-repo/semantics/altIdentifier/pmid/35854306. , 2022

Link: https://hdl.handle.net/1..

13

Genotype-phenotype correlations and disease mechanisms in P..:

Borgia, Paola ; Baldassari, Simona ; Pedemonte, Nicoletta...
https://discovery.ucl.ac.uk/id/eprint/10153185/1/Houlden_Genotype-phenotype%20correlations%20and%20disease%20mechanisms%20in%20PEX13-related%20Zellweger%20spectrum%20disorders_VoR.pdf. , 2022

Link: https://discovery.ucl.ac..

14

Genotype-phenotype correlations and disease mechanisms in P..:

Borgia, Paola ; Baldassari, Simona ; Pedemonte, Nicoletta...
info:eu-repo/semantics/altIdentifier/wos/WOS:000827764600005. , 2022

Link: https://hdl.handle.net/1..

15

Genotype–phenotype correlations and disease mechanisms in P..:

Paola Borgia ; Simona Baldassari ; Nicoletta Pedemonte...
https://doi.org/10.1186/s13023-022-02415-5. , 2022

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