E-LIB Suche - Ergebnisse für: Alshammari, Muneera J.

1

Genomic analysis of presumed perinatal stroke in Saudi Arab..:

Alshammari, Muneera J. ; Shamseldin, Hanan E. ; Essbaiheen, Fahad...
Human Genetics. 143 (2024) 1 - p. 59-69 , 2024

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

2

Case report: A late and isolated presentation of meningoenc..:

Alosaimi, Mohammed F. ; Hamad, Muddathir H. ; AlShammari, Muneera J...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

3

PMEL is mutated in oculocutaneous albinism:

AlAbdi, Lama ; Alshammari, Muneera ; Helaby, Rana..
Human Genetics. 142 (2022) 1 - p. 139-144 , 2022

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

4

Hoarse voice in children as the presenting feature of ECM1‐..:

Patel, Nisha ; Nabil, Amira ; Alshammari, Muneera.
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3924-3925 , 2021

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

5

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/..

6

Expanding the clinical and genetic heterogeneity of heredit..:

Alazami, Anas M. ; Al-Qattan, Sarah M. ; Faqeih, Eissa...
Human Genetics. 135 (2016) 5 - p. 525-540 , 2016

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

7

Confirming the candidacy ofTHOC6in the etiology of intellec..:

Anazi, Shamsa ; Alshammari, Muneera ; Moneis, Dorota...
American Journal of Medical Genetics Part A. 170 (2016) 5 - p. 1367-1369 , 2016

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

8

Novel phenotypes and loci identified through clinical genom..:

Patel, Nisha ; Anand, Deepti ; Monies, Dorota...
Human Genetics. 136 (2016) 2 - p. 205-225 , 2016

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

9

Accelerating matchmaking of novel dysmorphology syndromes t..:

Shaheen, Ranad ; Patel, Nisha ; Shamseldin, Hanan...
Genetics in Medicine. 18 (2016) 7 - p. 686-695 , 2016

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

10

Accelerating Novel Candidate Gene Discovery in Neurogenetic..:

Alazami, Anas M. ; Patel, Nisha ; Shamseldin, Hanan E....
Cell Reports. 10 (2015) 2 - p. 148-161 , 2015

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

11

The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, ..:

Aldahmesh, Mohammed A. ; Alshammari, Muneera J. ; Khan, Arif O....
Human Mutation. 34 (2013) 9 - p. 1195-1199 , 2013

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

12

Molecular characterization of Joubert syndrome in Saudi Ara..:

Alazami, Anas M. ; Alshammari, Muneera J. ; Salih, Mustafa A....
Human Mutation. 33 (2012) 10 - p. 1423-1428 , 2012

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

13

Molecular pathogenesis of fibrochondrogenesis: Is it really..:

Alzahrani, Fatema ; Alshammari, Muneera J. ; Alkuraya, Fowzan S.
Gene. 511 (2012) 2 - p. 480-481 , 2012

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

14

Weaver syndrome and defective cortical development: A rare ..:

Al‐Salem, Ahmed ; Alshammari, Muneera J. ; Hassan, Hamdy..
American Journal of Medical Genetics Part A. 161 (2012) 1 - p. 225-227 , 2012

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

15

3M Syndrome: An Easily Recognizable yet Underdiagnosed Caus..:

Al-Dosari, Mohammed S. ; Al-Shammari, Muneera ; Shaheen, Ranad...
The Journal of Pediatrics. 161 (2012) 1 - p. 139-145.e1 , 2012

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