E-LIB Suche - Ergebnisse für: Al‐Hashmi, Nadia

1

Metabolic and other morbid complications in congenital gene..:

Akinci, Gulcin ; Alyaarubi, Saif ; Patni, Nivedita...
American Journal of Medical Genetics Part A. 194 (2024) 6 - p. , 2024

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

2

Further phenotypic delineation of Alazami syndrome:

Al‐Hinai, Abdulhamid ; Al‐Hashmi, Samiya ; Ganesh, Anuradha...
American Journal of Medical Genetics Part A. 188 (2022) 8 - p. 2485-2490 , 2022

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

3

Biallelic ZNFX1 variants are associated with a spectrum of ..:

Alawbathani, Salem ; Westenberger, Ana ; Ordonez‐Herrera, Natalia...
Clinical Genetics. 101 (2021) 2 - p. 247-254 , 2021

Link: https://doi.org/10.1111/..

4

LRRK2 Loss‐of‐Function Variants in Patients with Rare Disea..:

Beetz, Christian ; Westenberger, Ana ; Al‐Ali, Ruslan...
Movement Disorders. 36 (2021) 4 - p. 1029-1031 , 2021

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

5

Deficiency of acyl‐CoA synthetase 5 is associated with a se..:

Al‐Thihli, Khalid ; Afting, Cassian ; Al‐Hashmi, Nadia...
Clinical Genetics. 99 (2020) 3 - p. 376-383 , 2020

Link: https://doi.org/10.1111/..

6

Biallelic mutations in neurofascin cause neurodevelopmental..:

Efthymiou, Stephanie ; Salpietro, Vincenzo ; Malintan, Nancy...
Brain. 142 (2019) 10 - p. 2948-2964 , 2019

Link: https://doi.org/10.1093/..

7

Delineating the phenotypic spectrum of hyperphosphatasia wi..:

Balobaid, Ameera ; Ben‐Omran, Tawfeg ; Ramzan, Khushnooda...
American Journal of Medical Genetics Part A. 176 (2018) 12 - p. 2850-2857 , 2018

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

8

Expanding the phenome and variome of skeletal dysplasia:

Maddirevula, Sateesh ; Alsahli, Saud ; Alhabeeb, Lamees...
Genetics in Medicine. 20 (2018) 12 - p. 1609-1616 , 2018

Link: https://doi.org/10.1038/..

9

Expanding the genetic heterogeneity of intellectual disabil..:

Anazi, Shams ; Maddirevula, Sateesh ; Salpietro, Vincenzo...
Human Genetics. 136 (2017) 11-12 - p. 1419-1429 , 2017

Link: https://doi.org/10.1007/..

10

Correction to: Expanding the genetic heterogeneity of intel..:

Anazi, Shams ; Maddirevula, Sateesh ; Salpietro, Vincenzo...
Human Genetics. 137 (2017) 1 - p. 105-109 , 2017

Link: https://doi.org/10.1007/..

11

Loss-of-function variant in DNASE1L3 causes a familial form..:

Al-Mayouf, Sulaiman M ; Sunker, Asma ; Abdwani, Reem...
Nature Genetics. 43 (2011) 12 - p. 1186-1188 , 2011

Link: https://doi.org/10.1038/..

12

Mutations in FKBP10 cause both Bruck syndrome and isolated ..:

Shaheen, Ranad ; Al‐Owain, Mohammed ; Faqeih, Eissa...
American Journal of Medical Genetics Part A. 155 (2011) 6 - p. 1448-1452 , 2011

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

13

LRP4 site-specific variants in the third β-propeller domain..:

Al Jabry, Tariq ; Al-Hashmi, Nadia ; Abdelhadi, Basem.
European Journal of Medical Genetics. 67 (2024) - p. 104903 , 2024

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

14

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrom..:

Mohammed, Mohammed ; Al-Hashmi, Nadia ; Al-Rashdi, Samiya...
European Journal of Medical Genetics. 62 (2019) 11 - p. 103583 , 2019

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

15

Exome Sequencing Identifies a Novel Sorting Nexin 14 Gene M..:

Al-Hashmi, Nadia ; Mohammed, Mohammed ; Al-Kathir, Salim..
Case Reports in Genetics. 2018 (2018) - p. 1-3 , 2018

Link: https://doi.org/10.1155/..