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Budde, Birgit
147  Ergebnisse:
Personensuche X
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1

Biallelic loss-of-function variants of ZFTRAF1 cause neurod..:

Asif, Maria ; Khayyat, Arwa Ishaq A. ; Alawbathani, Salem...
Genetics in Medicine.  26 (2024)  7 - p. 101143 , 2024
Link: https://doi.org/10.1016/..
 
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2

Frequency and functional characterization of fusion genes i..:

Alidousty, Christina ; Becker, Arvid ; Binot, Elke...
Gene.  895 (2024)  - p. 148018 , 2024
Link: https://doi.org/10.1016/..
 
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3

A novel MAP3K20 mutation causing centronuclear myopathy-6 w..:

Ahmad, Ilyas ; Khan, Ayaz ; Noor Ul Ayan, Hafiza...
Journal of Human Genetics.  68 (2022)  2 - p. 107-109 , 2022
Link: https://doi.org/10.1038/..
 
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4

Monoallelic and biallelic variants in LEF1 are associated w..:

Dufour, William ; Alawbathani, Salem ; Jourdain, Anne-Sophie...
Genetics in Medicine.  24 (2022)  8 - p. 1708-1721 , 2022
Link: https://doi.org/10.1016/..
 
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5

Modifier Genes in Microcephaly: A Report on WDR62, CEP63, R..:

Makhdoom, Ehtisham Ul Haq ; Waseem, Syeda Seema ; Iqbal, Maria...
Genes.  12 (2021)  5 - p. 731 , 2021
Link: https://doi.org/10.3390/..
 
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6

A Homozygous AKNA Frameshift Variant Is Associated with Mic..:

Waseem, Syeda Seema ; Moawia, Abubakar ; Budde, Birgit...
Genes.  12 (2021)  10 - p. 1494 , 2021
Link: https://doi.org/10.3390/..
 
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7

Delineating genetic underpinnings and disease pathogenesis ..:

Asif, Maria , 2020
Link: https://nbn-resolving.de..
 
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8

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, ..:

Rasool, Sajida ; Baig, Jamshaid Mahmood ; Moawia, Abubakar...
Molecular Genetics & Genomic Medicine.  8 (2020)  9 - p. , 2020
Link: https://doi.org/10.1002/..
 
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9

Mutations of KIF14 cause primary microcephaly by impairing ..:

Moawia, Abubakar ; Shaheen, Ranad ; Rasool, Sajida...
Annals of Neurology.  82 (2017)  4 - p. 562-577 , 2017
Link: https://doi.org/10.1002/..
 
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10

CDK5RAP2 interaction with components of the Hippo signaling..:

Sukumaran, Salil K. ; Stumpf, Maria ; Salamon, Sarah...
Molecular Genetics and Genomics.  292 (2016)  2 - p. 365-383 , 2016
Link: https://doi.org/10.1007/..
 
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11

Sequenzierung in der nächsten Generation — Forschung und Di..:

Altmüller, Janine ; Budde, Birgit
BIOspektrum.  18 (2012)  5 - p. 499-503 , 2012
Link: https://doi.org/10.1007/..
 
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12

Contractures and hypertrophic cardiomyopathy in a novel FHL..:

Knoblauch, Hans ; Geier, Christian ; Adams, Stephanie...
Annals of Neurology.  67 (2010)  1 - p. 136-140 , 2010
Link: https://doi.org/10.1002/..
 
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13

Gerodermia osteodysplastica is caused by mutations in SCYL1..:

Hennies, Hans Christian ; Kornak, Uwe ; Zhang, Haikuo...
Nature Genetics.  40 (2008)  12 - p. 1410-1412 , 2008
Link: https://doi.org/10.1038/..
 
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14

Impaired glycosylation and cutis laxa caused by mutations i..:

the ARCL Debré-type Study Group ; Kornak, Uwe ; Reynders, Ellen...
Nature Genetics.  40 (2007)  1 - p. 32-34 , 2007
Link: https://doi.org/10.1038/..
 
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15

Biallelic MAD2L1BP (p31comet) mutation is associated with m..:

Abdel-Salam, Ghada M. H. ; Hellmuth, Susanne ; Gradhand, Elise...
JCI Insight.  8 (2023)  22 - p. , 2023
Link: https://doi.org/10.1172/..
 
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