Begemann, Anaïs
39  Ergebnisse:
Personensuche X
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1

Missense variants in ANO4 cause sporadic encephalopathic or..:

Yang, Fang ; Begemann, Anais ; Reichhart, Nadine...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1184-1205 , 2024
 
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3

Cover:

Grether, Anna ; Ivanovski, Ivan ; Russo, Martina...
Molecular Genetics & Genomic Medicine.  11 (2023)  5 - p. , 2023
 
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4

A Xp22.11-p21.3 microdeletion in a three-generation family ..:

Begemann, Anaïs ; Oneda, Beatrice ; Baumer, Alessandra...
European Journal of Medical Genetics.  65 (2022)  12 - p. 104628 , 2022
 
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8

The role of recessive inheritance in early-onset epileptic ..:

Papuc, Sorina M. ; Abela, Lucia ; Steindl, Katharina...
European Journal of Human Genetics.  27 (2018)  3 - p. 408-421 , 2018
 
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10

The HHID syndrome of hypertrichosis, hyperkeratosis, abnorm..:

Zweier, Markus ; Peippo, Maarit M. ; Pöyhönen, Minna...
American Journal of Medical Genetics Part A.  173 (2017)  5 - p. 1440-1443 , 2017
 
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11

Pathogenic SCN2A variants cause early-stage dysfunction in ..:

Asadollahi, Reza ; Delvendahl, Igor ; Muff, Rebecca...
info:eu-repo/semantics/altIdentifier/doi/10.1093/hmg/ddad048.  , 2023
 
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12

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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13

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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