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Alsaif, Hessa S.
126  Ergebnisse:
Personensuche X
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1

KIF26A is mutated in the syndrome of congenital hydrocephal..:

Almannai, Mohammed ; AlAbdi, Lama ; Maddirevula, Sateesh...
Human Genetics.  142 (2022)  3 - p. 399-405 , 2022
Link: https://doi.org/10.1007/..
 
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2

Bi-allelic loss-of-function variants in BCAS3 cause a syndr..:

Hengel, Holger ; Hannan, Shabab B. ; Dyack, Sarah...
The American Journal of Human Genetics.  108 (2021)  6 - p. 1069-1082 , 2021
Link: https://doi.org/10.1016/..
 
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3

Biallelic and monoallelic variants in PLXNA1 are implicated..:

Dworschak, Gabriel C. ; Punetha, Jaya ; Kalanithy, Jeshurun C....
Genetics in Medicine.  23 (2021)  9 - p. 1715-1725 , 2021
Link: https://doi.org/10.1038/..
 
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4

The recurrent missense mutation p.(Arg367Trp) in YARS1 caus..:

Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald...
Journal of Molecular Medicine.  99 (2021)  12 - p. 1755-1768 , 2021
Link: https://doi.org/10.1007/..
 
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5

Correction to: The recurrent missense mutation p.(Arg367Trp..:

Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald...
Journal of Molecular Medicine.  99 (2021)  12 - p. 1769-1770 , 2021
Link: https://doi.org/10.1007/..
 
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6

Biallelic variants in SLC38A3 encoding a glutamine transpor..:

Marafi, Dana ; Fatih, Jawid M ; Kaiyrzhanov, Rauan...
Brain.  145 (2021)  3 - p. 909-924 , 2021
Link: https://doi.org/10.1093/..
 
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7

Lethal variants in humans: lessons learned from a large mol..:

Shamseldin, Hanan E. ; AlAbdi, Lama ; Maddirevula, Sateesh...
Genome Medicine.  13 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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8

ZNF668 deficiency causes a recognizable disorder of DNA dam..:

Alsaif, Hessa S. ; Al Ali, Hatoon ; Faqeih, Eissa...
Human Genetics.  140 (2021)  9 - p. 1395-1401 , 2021
Link: https://doi.org/10.1007/..
 
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9

MYH1 is a candidate gene for recurrent rhabdomyolysis in hu..:

Alsaif, Hessa S. ; Alshehri, Ali ; Sulaiman, Raashda A....
American Journal of Medical Genetics Part A.  185 (2021)  7 - p. 2131-2135 , 2021
Link: https://doi.org/10.1002/..
 
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10

Missense NAA20 variantsimpairing the NatB protein N-termina..:

Morrison, Jennifer ; Altuwaijri, Norah K. ; Brønstad, Kirsten...
Genetics in Medicine.  23 (2021)  11 - p. 2213-2218 , 2021
Link: https://doi.org/10.1038/..
 
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11

Biallelic UBE4A loss-of-function variants cause intellectua..:

Melo, Uirá Souto ; Bonner, Devon ; Kent Lloyd, Kevin C....
Genetics in Medicine.  23 (2021)  4 - p. 661-668 , 2021
Link: https://doi.org/10.1038/..
 
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12

Absence of GP130 cytokine receptor signaling causes extende..:

Chen, Yin-Huai ; Grigelioniene, Giedre ; Newton, Phillip T....
Journal of Experimental Medicine.  217 (2020)  3 - p. , 2020
Link: https://doi.org/10.1084/..
 
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13

Biallelic MFSD2A variants associated with congenital microc..:

Scala, Marcello ; Chua, Geok Lin ; Chin, Cheen Fei...
European Journal of Human Genetics.  28 (2020)  11 - p. 1509-1519 , 2020
Link: https://doi.org/10.1038/..
 
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14

DALRD3 encodes a protein mutated in epileptic encephalopath..:

Lentini, Jenna M. ; Alsaif, Hessa S. ; Faqeih, Eissa..
Nature Communications.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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15

Recessive mutations in SCYL2 cause a novel syndromic form o..:

Seidahmed, Mohammed Zain ; Al-Kindi, Adila ; Alsaif, Hessa S....
Human Genetics.  139 (2020)  4 - p. 513-519 , 2020
Link: https://doi.org/10.1007/..
 
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