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Assia Batzir, Nurit
17  results:
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1

Implication of transcription factor FOXD2 dysfunction in sy..:

Riedhammer, Korbinian M. ; Nguyen, Thanh-Minh T. ; Koşukcu, Can...
Kidney International.  105 (2024)  4 - p. 844-864 , 2024
Link: https://doi.org/10.1016/..
 
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2

Sequencing individual genomes with recurrent genomic disord..:

Yuan, Bo ; Schulze, Katharina V. ; Assia Batzir, Nurit...
Genome Medicine.  14 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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3

A nonsense variant in the second exon of the canonical tran..:

Ruhrman‐Shahar, Noa ; Assia Batzir, Nurit ; Lidzbarsky, Gabriel Arie...
American Journal of Medical Genetics Part A.  188 (2021)  1 - p. 369-372 , 2021
Link: https://doi.org/10.1002/..
 
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4

Recurrent arginine substitutions in theACTG2gene are the pr..:

Assia Batzir, Nurit ; Kishor Bhagwat, Pranjali ; Larson, Austin...
Human Mutation.  41 (2019)  3 - p. 641-654 , 2019
Link: https://doi.org/10.1002/..
 
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5

Phenotypic expansion ofPOGZ‐related intellectual disability..:

Assia Batzir, Nurit ; Posey, Jennifer E. ; Song, Xiaofei...
American Journal of Medical Genetics Part A.  182 (2019)  1 - p. 38-52 , 2019
Link: https://doi.org/10.1002/..
 
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6

The expanding neurological phenotype of DNM1L-related disor..:

Wangler, Michael F ; Assia Batzir, Nurit ; Robak, Laurie A...
Brain.  141 (2018)  4 - p. e28-e28 , 2018
Link: https://doi.org/10.1093/..
 
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7

Haploinsufficiency of ZFHX3, encoding a key player in neuro..:

Pérez Baca, María del Rocío ; Jacobs, Eva Z. ; Vantomme, Lies...
The American Journal of Human Genetics.  111 (2024)  3 - p. 509-528 , 2024
Link: https://doi.org/10.1016/..
 
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8

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary S..:

Schob, Claudia ; Hempel, Maja ; Safka Brozkova, Dana...
Annals of Neurology.  90 (2021)  5 - p. 738-750 , 2021
Link: https://doi.org/10.1002/..
 
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9

Sequencing individual genomes with recurrent genomic disord..:

Yuan, Bo ; Schulze, Katharina V ; Assia Batzir, Nurit...
Yuan, Bo, Schulze, Katharina V., Assia Batzir, Nurit, et al. "Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits." Genome Medicine, 14, (2022) Springer Nature: https://doi.org/10.1186/s13073-022-01113-y..  , 2022
Link: https://hdl.handle.net/1..
 
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10

Sequencing individual genomes with recurrent genomic disord..:

Yuan, Bo ; Schulze, Katharina V ; Assia Batzir, Nurit...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9526336/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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11

Recurrent Arginine Substitutions in the ACTG2 Gene are the ..:

Assia Batzir, Nurit ; Kishor Bhagwat, Pranjali ; Larson, Austin...
https://vbn.aau.dk/da/publications/ac70c72e-6ac9-406c-be37-06e0406e78f8.  , 2020
Link: https://vbn.aau.dk/da/pu..
 
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12

De novo missense variant in the GTPase effector domain (GED..:

Assia Batzir, Nurit ; Bhagwat, Pranjali K ; Eble, Tanya N...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549558/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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13

A novel neurodevelopmental syndrome caused by loss-of-funct..:

del Rocío Pérez Baca, María ; Jacobs, Eva Z ; Vantomme, Lies...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246128/.  , 2023
Link: http://www.ncbi.nlm.nih...
 
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14

Sequencing individual genomes with recurrent genomic disord..:

Bo Yuan ; Katharina V. Schulze ; Nurit Assia Batzir...
https://doi.org/10.1186/s13073-022-01113-y.  , 2022
Link: https://doi.org/10.1186/..
 
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15

Phenotypic expansion of POGZ-related intellectual disabilit..:

Batzir, Nurit Assia ; Posey, Jennifer E ; Song, Xiaofei...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7713511/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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