Mohamoud, Hussein Sheikh
18  Ergebnisse:
Personensuche X
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1

A missense mutation in TRAPPC6A leads to build-up of the pr..:

Mohamoud, Hussein Sheikh ; Ahmed, Saleem ; Jelani, Musharraf...
Mohamoud , H S , Ahmed , S , Jelani , M , Alrayes , N , Childs , K , Vadgama , N , Almramhi , M M , Al-Aama , J Y , Goodbourn , S & Nasir , J 2018 , ' A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features ' , Scientific Reports , vol. 8 , no. 1 , 2053 (2018) , pp. 1-9 . https://doi.org/10.1038/s41598-018-20658-w.  , 2018
 
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3

Whole exome sequencing reveals a homozygous SGCB variant in..:

Tariq, Muhammad ; Latif, Muhammad ; Inam, Memona...
http://nectar.northampton.ac.uk/15701/1/2020_Tariq_Muhammad_etal_Elsevier_Whole_exome_sequencing_reveals_a_homozygous_SGCB_variant_in_a_Pakhtun_family_with_limb_girdle_muscular_dystrophy_LGMDR4_phenotype.pdf.  , 2021
 
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4

Whole exome sequencing reveals a homozygous SGCB variant in..:

Tariq, Muhammad ; Latif, Muhammad ; Inam, Memona...
Tariq , M , Latif , M , Inam , M , Jan , A , Bibi , N , Mohamoud , H S A , Ali , I , Ahmad , H , Khan , A , Nasir , J , Wadood , A & Jelani , M 2021 , ' Whole exome sequencing reveals a homozygous SGCB variant in a Pakhtun family with limb girdle muscular dystrophy (LGMDR4) phenotype ' , Gene Reports , vol. 22 , 101014 . https://doi.org/10.1016/j.genrep.2020.101014.  , 2021
 
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5

A mutation in the major autophagy gene, WIPI2, associated w..:

Jelani, Musharraf ; Dooley, Hannah C ; Gubas, Andrea...
Jelani , M , Dooley , H C , Gubas , A , Mohamoud , H S A , Masood Khan , M T , Ali , Z , Kang , C , Rahim , F , Jan , A , Vadgama , N , Khan , M I , Al-Aama , J Y , Khan , A , Tooze , S A & Nasir , J 2019 , ' A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities ' , Brain , vol. 142 , no. 5 , pp. 1242-1254 . https://doi.org/10.1093/brain/awz075.  , 2019
 
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6

A mutation in the major autophagy gene, WIPI2, associated w..:

Jelani, Musharraf ; Dooley, Hannah C ; Gubas, Andrea...
http://nectar.northampton.ac.uk/13215/1/Jelani_etal_BRAIN_2019_A_mutation_in_the_major_autophagy_gene_WIPI2_associated_with_global_developmental_abnormalities.pdf.  , 2019
 
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7

The alkylglycerol monooxygenase (AGMO) gene previously invo..:

Alrayes, Nuha ; Mohamoud, Hussein Sheikh Ali ; Ahmed, Saleem...
Alrayes , N , Mohamoud , H S A , Ahmed , S , Almramhi , M M , Shuaib , T M , Wang , J , Al-Aama , J Y , Everett , K , Nasir , J & Jelani , M 2016 , ' The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family ' , Journal of the Neurological Sciences , vol. 363 , pp. 240-244 . https://doi.org/10.1016/j.jns.2016.02.063.  , 2016
 
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9

Truncating mutation in intracellular phospholipase A 1 gene..:

Alrayes, Nuha ; Mohamoud, Hussein Sheikh Ali ; Jelani, Musharraf...
Alrayes , N , Mohamoud , H S A , Jelani , M , Ahmad , S , Vadgama , N , Bakur , K , Simpson , M , Al-Aama , J Y & Nasir , J 2015 , ' Truncating mutation in intracellular phospholipase A 1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54) ' , BMC Research Notes , vol. 8 , no. 1 , 271 . https://doi.org/10.1186/s13104-015-1227-4.  , 2015
 
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10

Truncating mutation in intracellular phospholipase A 1 gene..:

Alrayes, Nuha ; Mohamoud, Hussein Sheikh Ali ; Jelani, Musharraf...
Alrayes , N , Mohamoud , H S A , Jelani , M , Ahmad , S , Vadgama , N , Bakur , K , Simpson , M , Al-Aama , J Y & Nasir , J 2015 , ' Truncating mutation in intracellular phospholipase A 1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54) ' , BMC Research Notes , vol. 8 , no. 1 , 271 . https://doi.org/10.1186/s13104-015-1227-4.  , 2015
 
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11

Truncating mutation in intracellular phospholipase A1 gene ..:

Alrayes, Nuha ; Mohamoud, Hussein Sheikh Ali ; Jelani, Musharraf...
Alrayes , N , Mohamoud , H S A , Jelani , M , Ahmad , S , Vadgama , N , Bakur , K , Simpson , M , Al-Aama , J Y & Nasir , J 2015 , ' Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54) ' , BMC Research Notes , vol. 8 , no. 1 . https://doi.org/10.1186/s13104-015-1227-4.  , 2015
 
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15

Induced pluripotent stem cell modelling of HLHS underlines ..:

Yang, Chunbo ; Xu, Yaobo ; Yu, Min...
Yang , C , Xu , Y , Yu , M , Lee , D , Alharti , S , Hellen , N , Ahmad Shaik , N , Banaganapalli , B , Sheikh , H A M , Ramu , E , Przyborski , S , Tenin , G , Williams , S , O'Sullivan , J , Al-Radi , O O , Atta , J , Harding , S E , Keavney , B , Lako , M & Armstrong , L 2017 , ' Induced pluripotent stem cell modelling of HLHS underlines the contribution of dysfunctional NOTCH signalling to impaired cardiogenesis ' , Human Molecular Genetics . https://doi.org/10.1093/hmg/ddx140.  , 2017
 
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