Baig, Shahid
186  Ergebnisse:
Personensuche X
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1

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, Maria ; Maroofian, Reza ; Çavdarli, Büşranur...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01260-4.  , 2021
 
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2

Biallelic variants in PCDHGC4 cause a novel neurodevelopmen..:

Iqbal, Maria ; Maroofian, Reza ; Çavdarlı, Büşranur...
info:eu-repo/semantics/altIdentifier/doi/10.1038/s41436-021-01260-4.  , 2021
 
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3

Mono-allelic and bi-allelic variants in NCDN cause neurodev..:

Fatima, Ambrin ; Hoeber, Jan ; Schuster, Jens...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.02.015.  , 2021
 
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9

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
https://discovery.ucl.ac.uk/id/eprint/10183419/1/awad257.pdf.  , 2023
 
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10

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Maroofian , R , Kaiyrzhanov , R , Cali , E , Zamani , M , Zaki , M S , Ferla , M , Tortora , D , Sadeghian , S , Saadi , S M , Abdullah , U , Ghayoor Karimiani , E , Efthymiou , S , Yeşil , G , Alavi , S , Al Shamsi , A M , Tajsharghi , H , Abdel-Hamid , M S , Saadi , N W , Al Mutairi , F , Alabdi , L , Beetz , C , Ali , Z , Toosi , M B , Rudnik-Schöneborn , S , Babaei , M , Isohanni , P , Muhammad , J , Sheraz , K , Al Shalan , M , Hickey , S E , Marom , D , Elhanan , E , Kurian , M A , Marafi , D , Saberi , A , Hamid , M , Spaull , R , Meng , L , Lalani , S , Maqbool , S , Rahman , F , Seeger , J , Palculict , T B , Lau , T , Murphy , D , Mencacci , N E , Steindl , K , Begemann , A , Rauch , A , Akbas , S , Dilruba , A A , Salpietro , V , Yousaf , H , Ben-Shachar , S , Ejeskär , K , Al Aqeel , A I , High , F A , Armstrong-Javors , A E , Zahraei , S M , Seifi , T , Zeighami , J , Shariati , G , Sedaghat , A , Asl , S N , Shahrooei , M , Zifarelli , G , Burg....  , 2023
 
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11

Genetic Investigation of Consanguineous Pakistani Families ..:

Saadi, Saadia Maryam ; Cali, Elisa ; Khalid, Lubaba Bintee...
https://discovery.ucl.ac.uk/id/eprint/10173948/1/genes-14-01404.pdf.  , 2023
 
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14

A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive..:

Yousaf, Hammad ; Fatima, Ambrin ; Ali, Zafar...
Yousaf, Hammad Fatima, Ambrin Ali, Zafar Baig, Shahid M. Toft, Mathias Iqbal, Zafar . A Novel Nonsense Variant in GRM1 Causes Autosomal Recessive Spinocerebellar Ataxia 13 in a Consanguineous Pakistani Family. Genes. 2022, 13(9).  , 2022
 
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