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El‐Shanti, Hatem
95  results:
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1

Biallelic loss of function variants inPPP1R21cause a neurod..:

Rehman, Atteeq U. ; Najafi, Maryam ; Kambouris, Marios...
Human Mutation.  , 2018
Link: https://doi.org/10.1002/..
 
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2

Congenital glucose‐galactose malabsorption: A case report w..:

Al‐lawama, Manar ; Albaramki, Jumana ; Altamimi, Mutaz.
Clinical Case Reports.  7 (2018)  1 - p. 51-53 , 2018
Link: https://doi.org/10.1002/..
 
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3

A chromosomal microdeletion of 15q in a female patient with..:

Ahram, Dina F. ; Al‐Sarraj, Yasser ; Taha, Rowaida Z....
Clinical Case Reports.  5 (2017)  6 - p. 1013-1017 , 2017
Link: https://doi.org/10.1002/..
 
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4

Mosaic partial pericentromeric trisomy 8 and maternal unipa..:

Ahram, Dina F. ; Stambouli, Danae ; Syrogianni, Aleksandra...
Clinical Case Reports.  4 (2016)  12 - p. 1125-1131 , 2016
Link: https://doi.org/10.1002/..
 
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5

Biallelic SCN10A mutations in neuromuscular disease and epi..:

Kambouris, Marios ; Thevenon, Julien ; Soldatos, Ariane...
Annals of Clinical and Translational Neurology.  4 (2016)  1 - p. 26-35 , 2016
Link: https://doi.org/10.1002/..
 
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6

Distal trisomy 10q syndrome, report of a patient with dupli..:

Al‐Sarraj, Yasser ; Al‐Khair, Hakam Abu ; Taha, Rowaida Ziad...
Clinical Case Reports.  2 (2014)  5 - p. 201-205 , 2014
Link: https://doi.org/10.1002/..
 
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7

Breakpoint localization using array‐CGH in three siblings w..:

Shriberg, Lawrence D. ; Jakielski, Kathy J. ; El‐Shanti, Hatem
American Journal of Medical Genetics Part A.  146A (2008)  17 - p. 2227-2233 , 2008
Link: https://doi.org/10.1002/..
 
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8

Neutrophil dysfunction in a family with a SAPHO syndrome–li..:

Ferguson, Polly J. ; Lokuta, Mary A. ; El‐Shanti, Hatem I....
Arthritis & Rheumatism.  58 (2008)  10 - p. 3264-3269 , 2008
Link: https://doi.org/10.1002/..
 
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9

A splice site mutation confirms the role of LPIN2 in Majeed..:

Al‐Mosawi, Zakiya S. ; Al‐Saad, Khulood K. ; Ijadi‐Maghsoodi, Roya..
Arthritis & Rheumatism.  56 (2007)  3 - p. 960-964 , 2007
Link: https://doi.org/10.1002/..
 
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10

The genetic landscape of autism spectrum disorder in the Mi..:

Al-Sarraj, Yasser ; Taha, Rowaida Z. ; Al-Dous, Eman...
Frontiers in Genetics.  15 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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11

P145: Paradigm shift in Occam's Razor and the need for geno..:

Tung, Moon Ley ; Chandra, Bharatendu ; Nagy, Jaime...
Genetics in Medicine Open.  2 (2024)  - p. 101042 , 2024
Link: https://doi.org/10.1016/..
 
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12

eP095: A family-based study of hereditary spastic paraplegi..:

Chandra, Bharatendu ; Romoser, Shelby ; Kotlarek, Jaclyn..
Genetics in Medicine.  24 (2022)  3 - p. S62 , 2022
Link: https://doi.org/10.1016/..
 
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13

eP094: Diagnostic yield of chromosomal microarray in congen..:

Chandra, Bharatendu ; Tung, Moon Ley ; Sidhu, Alpa...
Genetics in Medicine.  24 (2022)  3 - p. S61-S62 , 2022
Link: https://doi.org/10.1016/..
 
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14

Congenital muscle dystrophies: Role of singleton whole exom..:

Masri, Amira T. ; Oweis, Liyana ; Qudah, Abdelkarim Al.
Clinical Neurology and Neurosurgery.  217 (2022)  - p. 107271 , 2022
Link: https://doi.org/10.1016/..
 
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15

TBX3 and EFNA4 Variant in a Family with Ulnar-Mammary Syndr..:

Tung, Moon Ley ; Chandra, Bharatendu ; Kotlarek, Jaclyn...
Genes.  13 (2022)  9 - p. 1649 , 2022
Link: https://doi.org/10.3390/..
 
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