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Alkuraya, Fowzan S
681  results:
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1

Clinical exome sequencing by general pediatricians: high cl..:

Baz, Danya Salah ; Baz, Dareen ; Alrwuili, Fawzah...
Frontiers in Pediatrics.  12 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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2

Bi-allelic variants in HCRT cause autosomal recessive narco..:

Hakami, Wejdan ; Thabet, Farah ; Alhashem, Amal...
neurogenetics.  , 2024
Link: https://doi.org/10.1007/..
 
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3

Surgical Outcomes of Retinal Detachment in Knobloch Syndrom:

Alzaben, Khawlah A. ; Mousa, Ahmed ; Al-Abdi, Lama..
Ophthalmology Retina.  , 2024
Link: https://doi.org/10.1016/..
 
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4

Functional studies in yeast confirm the pathogenicity of a ..:

Mehrjoo, Yosra ; Campeau, Philippe M. ; Al Abdi, Lama...
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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5

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/..
 
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6

Toward robust clinical genome interpretation: Developing a ..:

Roberts, Angharad M. ; DiStefano, Marina T. ; Riggs, Erin Rooney...
Genetics in Medicine.  26 (2024)  2 - p. 101029 , 2024
Link: https://doi.org/10.1016/..
 
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7

Further delineation of the phenotypic and metabolomic profi..:

You, Mikyoung ; Shamseldin, Hanan E. ; Fogle, Halle M....
Clinical Genetics.  105 (2024)  5 - p. 488-498 , 2024
Link: https://doi.org/10.1111/..
 
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8

Human ABL1 deficiency syndrome (HADS) is a recognizable syn..:

AlAbdi, Lama ; Neuhann, Teresa ; Prott, Eva-Christina...
Human Genetics.  143 (2024)  6 - p. 739-745 , 2024
Link: https://doi.org/10.1007/..
 
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9

Vitamin D-binding protein deficiency: an underrecognized Me..:

Al Masseri, Zainab ; Alqahtani, Mashael ; Almoshawer, Eman.
Human Genetics.  143 (2024)  2 - p. 101-105 , 2024
Link: https://doi.org/10.1007/..
 
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10

Joint contractures is a recurrent clinical feature of indiv..:

Peduto, Cristina ; Cappuccio, Gerarda ; Zeuli, Roberta...
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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11

A founder variant expands the phenotype of WNT7B‐related PD..:

AlAbdi, Lama ; Rahbeeni, Zuhair ; Maddirevula, Sateesh...
Clinical Genetics.  106 (2024)  1 - p. 66-71 , 2024
Link: https://doi.org/10.1111/..
 
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12

Novel loss-of-function variants expand ABCC9-related intell..:

Efthymiou, Stephanie ; Scala, Marcello ; Nagaraj, Vini...
Brain.  147 (2024)  5 - p. 1822-1836 , 2024
Link: https://doi.org/10.1093/..
 
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13

Bi-allelic variants in CEP295 cause Seckel-like syndrome pr..:

Li, Niu ; Xu, Yufei ; Chen, Hongzhu...
eBioMedicine.  99 (2024)  - p. 104940 , 2024
Link: https://doi.org/10.1016/..
 
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14

NanoRanger enables rapid single-base-pair resolution of gen..:

Zhang, Yingzi ; Bi, Chongwei ; Nadeef, Seba...
Med.  , 2024
Link: https://doi.org/10.1016/..
 
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15

Hypomorphic variants of SEL1L-HRD1 ER-associated degradatio..:

Wang, Huilun H. ; Lin, Liangguang L. ; Li, Zexin J....
Journal of Clinical Investigation.  134 (2024)  2 - p. , 2024
Link: https://doi.org/10.1172/..
 
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