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Bögershausen, Nina
21  results:
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1

WARS1andSARS1: Two tRNA synthetases implicated in autosomal..:

Bögershausen, Nina ; Krawczyk, Hannah E. ; Jamra, Rami A....
Human Mutation.  43 (2022)  10 - p. 1454-1471 , 2022
Link: https://doi.org/10.1002/..
 
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2

Genomic basis of syndromic short stature in an Algerian pat..:

Moosa, Shahida ; Chentli, Farida ; Altmüller, Janine...
American Journal of Medical Genetics Part A.  188 (2021)  2 - p. 606-612 , 2021
Link: https://doi.org/10.1002/..
 
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3

Intellectual disability associated with craniofacial dysmor..:

Gangfuß, Andrea ; Yigit, Gökhan ; Altmüller, Janine...
American Journal of Medical Genetics Part A.  185 (2021)  4 - p. 1216-1221 , 2021
Link: https://doi.org/10.1002/..
 
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4

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Re..:

Bögershausen, Nina ; Wollnik, Bernd
Frontiers in Molecular Neuroscience.  11 (2018)  - p. , 2018
Link: https://doi.org/10.3389/..
 
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5

Update on the ACTG1‐associated Baraitser–Winter cerebrofron..:

Di Donato, Nataliya ; Kuechler, Alma ; Vergano, Samantha...
American Journal of Medical Genetics Part A.  170 (2016)  10 - p. 2644-2651 , 2016
Link: https://doi.org/10.1002/..
 
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6

Mutation Update for Kabuki Syndrome GenesKMT2DandKDM6Aand F..:

Bögershausen, Nina ; Gatinois, Vincent ; Riehmer, Vera...
Human Mutation.  37 (2016)  9 - p. 847-864 , 2016
Link: https://doi.org/10.1002/..
 
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7

An unusual presentation of Kabuki syndrome with orbital cys..:

Bögershausen, Nina ; Altunoglu, Umut ; Beleggia, Filippo...
American Journal of Medical Genetics Part A.  170 (2016)  12 - p. 3282-3288 , 2016
Link: https://doi.org/10.1002/..
 
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8

A syndrome of microcephaly, short stature, polysyndactyly, ..:

Yigit, Gökhan ; Wieczorek, Dagmar ; Bögershausen, Nina...
American Journal of Medical Genetics Part A.  170 (2015)  3 - p. 728-733 , 2015
Link: https://doi.org/10.1002/..
 
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9

Mutations inCDK5RAP2cause Seckel syndrome:

Yigit, Gökhan ; Brown, Karen E. ; Kayserili, Hülya...
Molecular Genetics & Genomic Medicine.  3 (2015)  5 - p. 467-480 , 2015
Link: https://doi.org/10.1002/..
 
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10

CHARGE and Kabuki syndromes: a phenotypic and molecular lin:

Schulz, Yvonne ; Freese, Luisa ; Mänz, Johanna...
Human Molecular Genetics.  23 (2014)  16 - p. 4396-4405 , 2014
Link: https://doi.org/10.1093/..
 
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11

Severe Cenani–Lenz syndrome caused by loss of LRP4 function:

Kariminejad, Ariana ; Stollfuß, Barbara ; Li, Yun...
American Journal of Medical Genetics Part A.  161 (2013)  6 - p. 1475-1479 , 2013
Link: https://doi.org/10.1002/..
 
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12

A comprehensive molecular study on Coffin–Siris and Nicolai..:

Wieczorek, Dagmar ; Bögershausen, Nina ; Beleggia, Filippo...
Human Molecular Genetics.  22 (2013)  25 - p. 5121-5135 , 2013
Link: https://doi.org/10.1093/..
 
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13

A mutation screen in patients with Kabuki syndrome:

Li, Yun ; Bögershausen, Nina ; Alanay, Yasemin...
Human Genetics.  130 (2011)  6 - p. 715-724 , 2011
Link: https://doi.org/10.1007/..
 
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14

WARS1 and SARS1: Two tRNA synthetases implicated in autosom..:

Bögershausen, Nina ; Krawczyk, Hannah E ; Jamra, Rami A...
EXC 2067: Multiscale Bioimaging.  , 2022
Link: https://resolver.sub.uni..
 
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15

Mutational Landscapes and Phenotypic Spectrum of SWI/SNF-Re..:

Bögershausen, Nina ; Wollnik, Bernd
1662-5099.  , 2018
Link: https://resolver.sub.uni..
 
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