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Alshammari, Muneera J.
29
results:
Search for persons
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Format
Online (29)
Mediatypes
Articles (Online) (16)
OpenAccess-fulltext (13)
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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
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/..
?
7
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/..
?
8
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/..
?
9
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/..
?
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
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/..
?
14
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/..
?
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/..
1-15