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Alkuraya, Hisham
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1

Beyond the exome: utility of long-read whole genome sequenc..:

AlAbdi, Lama ; Shamseldin, Hanan E. ; Khouj, Ebtissal...
Genome Medicine.  15 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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2

The morbid genome of ciliopathies: an update:

Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour...
Genetics in Medicine.  24 (2022)  4 - p. 966 , 2022
Link: https://doi.org/10.1016/..
 
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3

Further delineation of HIDEA syndrome:

Maddirevula, Sateesh ; Ben‐Omran, Tawfeg ; AlMureikhi, Mariam...
American Journal of Medical Genetics Part A.  182 (2020)  12 - p. 2999-3006 , 2020
Link: https://doi.org/10.1002/..
 
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4

The morbid genome of ciliopathies: an update:

Shamseldin, Hanan E. ; Shaheen, Ranad ; Ewida, Nour...
Genetics in Medicine.  22 (2020)  6 - p. 1051-1060 , 2020
Link: https://doi.org/10.1038/..
 
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5

Front Cover:

Alkuraya, Hisham ; Patel, Nisha ; Ibrahim, Niema...
Clinical Genetics.  97 (2020)  3 - p. , 2020
Link: https://doi.org/10.1111/..
 
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6

Phenotypic delineation of the retinal arterial macroaneurys..:

Alkuraya, Hisham ; Patel, Nisha ; Ibrahim, Niema...
Clinical Genetics.  97 (2019)  3 - p. 447-456 , 2019
Link: https://doi.org/10.1111/..
 
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7

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/..
 
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8

Congenital glaucoma and CYP1B1: an old story revisited:

Alsaif, Hessa S. ; Khan, Arif O. ; Patel, Nisha...
Human Genetics.  138 (2018)  8-9 - p. 1043-1049 , 2018
Link: https://doi.org/10.1007/..
 
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9

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/..
 
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10

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/..
 
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11

Expanding the clinical, allelic, and locus heterogeneity of..:

Patel, Nisha ; Aldahmesh, Mohammed A. ; Alkuraya, Hisham...
Genetics in Medicine.  18 (2016)  6 - p. 554-562 , 2016
Link: https://doi.org/10.1038/..
 
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12

Treatment of retinitis pigmentosa due to MERTK mutations by..:

Ghazi, Nicola G. ; Abboud, Emad B. ; Nowilaty, Sawsan R....
Human Genetics.  135 (2016)  3 - p. 327-343 , 2016
Link: https://doi.org/10.1007/..
 
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13

Characterizing the morbid genome of ciliopathies:

Ciliopathy WorkingGroup ; Shaheen, Ranad ; Szymanska, Katarzyna...
Genome Biology.  17 (2016)  1 - p. , 2016
Link: https://doi.org/10.1186/..
 
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14

Exome-based case–control association study using extreme ph..:

Shtir, Corina ; Aldahmesh, Mohammed A. ; Al-Dahmash, Saad...
Human Genetics.  135 (2015)  2 - p. 193-200 , 2015
Link: https://doi.org/10.1007/..
 
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15

Mutations in LRPAP1 Are Associated with Severe Myopia in Hu..:

Aldahmesh, Mohammed A. ; Khan, Arif O. ; Alkuraya, Hisham...
The American Journal of Human Genetics.  93 (2013)  2 - p. 313-320 , 2013
Link: https://doi.org/10.1016/..
 
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