E-LIB Suche - Ergebnisse für: Salih, Mustafa A.

1

Clinical phenotyping and genetic diagnosis of a large cohor..:

Yahia, Ashraf ; Hamed, Ahlam, a A ; Mohamed, Inaam, N...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41431-023-01344-6. , 2023

Link: https://hal.sorbonne-uni..

2

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://eprints.soton.ac.uk/472172/1/Manuscript_revised_cleanversion.docx. , 2023

Link: https://eprints.soton.ac..

3

Clinical, genetic, and functional characterization of the g..:

Aboheimed, Ghada I ; AlRasheed, Maha M ; Almudimeegh, Sultan...
https://discovery.ucl.ac.uk/id/eprint/10148715/1/Harvey_1-s2.0-S0021925822004586-main.pdf. , 2022

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

4

Biallelic PRMT7 pathogenic variants are associated with a r..:

Cali, Elisa ; Suri, Mohnish ; Scala, Marcello...
https://discovery.ucl.ac.uk/id/eprint/10160152/1/Maroofian_Biallelic%20PRMT7%20pathogenic%20variants%20are%20associated%20with%20a%20recognizable%20syndromic%20neurodevelopmental%20disorder%20with%20short%20stature,%20obesity,%20and%20craniofacial%20and%20digital%20abnormalitie_AOP.pdf.pdf. , 2022

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

5

A heterozygous mutation in the CCDC88C gene likely causes e..:

Yahia, Ashraf ; Chen, Zhefan Stephen ; Ahmed, Ammar, E...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s12883-021-02113-y. , 2021

Link: https://hal.sorbonne-uni..

6

A heterozygous mutation in the CCDC88C gene likely causes e..:

Yahia, Ashraf ; Chen, Zhefan Stephen ; Ahmed, Ammar...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s12883-021-02113-y. , 2021

Link: https://hal.sorbonne-uni..

7

A heterozygous mutation in the CCDC88C gene likely causes e..:

Yahia, Ashraf ; Chen, Zhefan Stephen ; Ahmed, Ammar, E...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s12883-021-02113-y. , 2021

Link: https://hal.sorbonne-uni..

8

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor De..:

Yahia, Ashraf ; Elsayed, Liena, E O ; Valter, Remi...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2021.720201. , 2021

Link: https://hal.sorbonne-uni..

9

A heterozygous mutation in the CCDC88C gene likely causes e..:

Yahia, Ashraf ; Chen, Zhefan Stephen ; Ahmed, Ammar, E...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s12883-021-02113-y. , 2021

Link: https://hal.sorbonne-uni..

10

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor De..:

Yahia, Ashraf ; Elsayed, Liena, E O ; Valter, Remi...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2021.720201. , 2021

Link: https://hal.sorbonne-uni..

11

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor De..:

Yahia, Ashraf ; Elsayed, Liena ; Valter, Remi...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2021.720201. , 2021

Link: https://hal.sorbonne-uni..

12

Pathogenic Variants in ABHD16A Cause a Novel Psychomotor De..:

Yahia, Ashraf ; Elsayed, Liena, E O ; Valter, Remi...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2021.720201. , 2021

Link: https://hal.sorbonne-uni..

13

Novel Homozygous Missense Mutation in the ARG1 Gene in a La..:

Elsayed, Liena ; Mohammed, Inaam ; Hamed, Ahlam...
info:eu-repo/semantics/altIdentifier/doi/10.3389/fneur.2020.569996. , 2020

Link: https://hal.sorbonne-uni..

14

The clinical, histologic, and genotypic spectrum ofSEPN1-re..:

Wilichowski, Ekkehard ; Chaigne, Denys ; Castiglioni, Claudia...
2fb80a9b-1e65-4c7a-9e91-5c6718dd8eab. , 2020

Link: https://doi.org/10.1212/..

15

Elucidating the genetic architecture of Adams-Oliver syndro..:

Meester, Josephina A. N ; Sukalo, Maja ; Schroeder, Kim C...
10.1002/humu.23567. , 2018

Link: http://hdl.handle.net/10..