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Barakat, Tahsin Stefan
176  results:
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1

Re‐analysis of whole genome sequencing ends a diagnostic od..:

Schot, Rachel ; Ferraro, Federico ; Geeven, Geert..
Clinical Genetics.  , 2024
Link: https://doi.org/10.1111/..
 
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2

Hypomagnesaemia with varying degrees of extrarenal symptoms..:

Bosman, Willem ; Franken, Gijs A. C. ; de las Heras, Javier...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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3

Etiological involvement of KCND1 variants in an X-linked ne..:

Kalm, Tassja ; Schob, Claudia ; Völler, Hanna...
The American Journal of Human Genetics.  111 (2024)  6 - p. 1206-1221 , 2024
Link: https://doi.org/10.1016/..
 
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4

Autosomal recessive BLOC1S1 variants cause a hypomyelinatin..:

Gonzalez, Carlos Dominguez ; Sanderson, Leslie E. ; Depace, Raffaella...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108328 , 2024
Link: https://doi.org/10.1016/..
 
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5

USP27Xvariants underlying X-linked intellectual disability ..:

Koch, Intisar ; Slovik, Maya ; Zhang, Yuling...
Life Science Alliance.  7 (2024)  3 - p. e202302258 , 2024
Link: https://doi.org/10.26508..
 
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6

Inhibition of HDAC activity directly reprograms murine embr..:

Huang, Boyan ; Peng, Xing ; Zhai, Xuzhao...
Developmental Cell.  , 2024
Link: https://doi.org/10.1016/..
 
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7

Confirmation and expansion of the phenotype of the TCEAL1-r..:

Albuainain, Fatimah ; Shi, Yuwei ; Lor-Zade, Sarah...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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8

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine.  25 (2023)  11 - p. 100964 , 2023
Link: https://doi.org/10.1016/..
 
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9

Identification of a robust DNA methylation signature for Fa..:

Pagliara, Daria ; Ciolfi, Andrea ; Pedace, Lucia...
The American Journal of Human Genetics.  110 (2023)  11 - p. 1938-1949 , 2023
Link: https://doi.org/10.1016/..
 
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10

Solving the unsolved genetic epilepsies: Current and future..:

Johannesen, Katrine M. ; Tümer, Zeynep ; Weckhuysen, Sarah..
Epilepsia.  64 (2023)  12 - p. 3143-3154 , 2023
Link: https://doi.org/10.1111/..
 
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11

Intrafamilial variability in SLC6A1-related neurodevelopmen..:

Kassabian, Benedetta ; Fenger, Christina Dühring ; Willems, Marjolaine...
Frontiers in Neuroscience.  17 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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12

De novo PHF5A variants are associated with craniofacial abn..:

Harms, Frederike L. ; Dingemans, Alexander J.M. ; Hempel, Maja...
Genetics in Medicine.  25 (2023)  10 - p. 100927 , 2023
Link: https://doi.org/10.1016/..
 
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13

Corrigendum: Intrafamilial variability in SLC6A1-related ne..:

Kassabian, Benedetta ; Fenger, Christina Dühring ; Willems, Marjolaine...
Frontiers in Neuroscience.  17 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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14

Inherited variants in CHD3 show variable expressivity in Sn..:

van der Spek, Jet ; den Hoed, Joery ; Snijders Blok, Lot...
Genetics in Medicine.  24 (2022)  6 - p. 1283-1296 , 2022
Link: https://doi.org/10.1016/..
 
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15

Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a C..:

Calame, Daniel G. ; Herman, Isabella ; Maroofian, Reza...
Annals of Neurology.  92 (2022)  2 - p. 304-321 , 2022
Link: https://doi.org/10.1002/..
 
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