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Kubisch, Christian
377  Ergebnisse:
Personensuche X
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1

Multi‐gene panel sequencing in highly consanguineous famili..:

Kakar, Naseebullah ; Rehman, Fazal ur ; Kaur, Ramandeep...
Clinical Genetics.  106 (2024)  1 - p. 47-55 , 2024
Link: https://doi.org/10.1111/..
 
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2

Stand der humangenetischen Versorgung in der Pädiatrie: Ant..:

Elbracht, Miriam ; Kurth, Ingo ; Kubisch, Christian.
Pädiatrie.  36 (2024)  1 - p. 32-35 , 2024
Link: https://doi.org/10.1007/..
 
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3

HMG-CoA reductase is a potential therapeutic target for mig..:

Qu, Kang ; Li, Ming-xi ; Yu, Peng...
Scientific Reports.  14 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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4

Gain-of-function variants in CLCN7 cause hypopigmentation a..:

Polovitskaya, Maya M. ; Rana, Tanushka ; Ullrich, Kurt...
Journal of Biological Chemistry.  300 (2024)  7 - p. 107437 , 2024
Link: https://doi.org/10.1016/..
 
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5

Fatty acid synthesis suppresses dietary polyunsaturated fat..:

Worthmann, Anna ; Ridder, Julius ; Piel, Sharlaine Y. L....
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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6

Psychological distress of adult patients consulting a cente..:

Mund, Meike ; Uhlenbusch, Natalie ; Rillig, Franziska...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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7

AXIN1 bi-allelic variants disrupting the C-terminal DIX dom..:

Terhal, Paulien ; Venhuizen, Anton J. ; Lessel, Davor...
The American Journal of Human Genetics.  110 (2023)  9 - p. 1470-1481 , 2023
Link: https://doi.org/10.1016/..
 
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8

Functional Loss of Terminal Complement Complex Protects Rab..:

Riegger, Jana ; Joos, Helga ; Möhler, Valentin...
Biomolecules.  13 (2023)  2 - p. 216 , 2023
Link: https://doi.org/10.3390/..
 
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9

A recurrent homozygous LMNA missense variant p.Thr528Met ca..:

Saadi, Abdelkrim ; Navarro, Claire ; Ozalp, Ozge...
American Journal of Medical Genetics Part A.  , 2023
Link: https://doi.org/10.1002/..
 
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10

Biallelic variants in the calpain regulatory subunit CAPNS1..:

Postma, Alex V. ; Rapp, Christina K. ; Knoflach, Katrin...
Genetics in Medicine Open.  1 (2023)  1 - p. 100811 , 2023
Link: https://doi.org/10.1016/..
 
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11

AATD as a genetic risk factor for aneurysmal disease – Auth..:

von Kodolitsch, Yskert ; Kubisch, Christian ; Carrel, Thierry
The Lancet.  402 (2023)  10413 - p. 1626 , 2023
Link: https://doi.org/10.1016/..
 
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12

Multimodal characterization of dilated cardiomyopathy: Geno..:

Keil, Laura ; Berisha, Filip ; Ritter, Stella...
ESC Heart Failure.  11 (2023)  1 - p. 541-549 , 2023
Link: https://doi.org/10.1002/..
 
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13

Expanding the clinical spectrum of COL2A1 related disorders..:

Demal, Till Joscha ; Scholz, Tasja ; Schüler, Helke...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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14

Biallelic PAN2 variants in individuals with a syndromic neu..:

Reuter, Miriam S. ; Zech, Michael ; Hempel, Maja...
European Journal of Human Genetics.  30 (2022)  5 - p. 611-618 , 2022
Link: https://doi.org/10.1038/..
 
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15

LMNA Mutation in a Family with a Strong History of Sudden C..:

Keil, Laura ; Berisha, Filip ; Knappe, Dorit...
Genes.  13 (2022)  2 - p. 169 , 2022
Link: https://doi.org/10.3390/..
 
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