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Grasshoff, Ute
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1

ZSCAN10 deficiency causes a neurodevelopmental disorder wit..:

Laugwitz, Lucia ; Cheng, Fubo ; Collins, Stephan C...
Brain.  147 (2024)  7 - p. 2471-2482 , 2024
Link: https://doi.org/10.1093/..
 
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2

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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3

Humangenetische Diagnostik und Beratung - wer, wann und wie..:

Grasshoff, Ute ; Spranger, Stephanie
Pädiatrie.  36 (2024)  1 - p. 22-31 , 2024
Link: https://doi.org/10.1007/..
 
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4

Clustered variants in the 5′ coding region of TRA2B cause a..:

Ramond, Francis ; Dalgliesh, Caroline ; Grimmel, Mona...
Genetics in Medicine.  25 (2023)  4 - p. 100003 , 2023
Link: https://doi.org/10.1016/..
 
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5

Diagnostic genome sequencing improves diagnostic yield: a p..:

Weisschuh, Nicole ; Mazzola, Pascale ; Zuleger, Theresia...
Journal of Medical Genetics.  61 (2023)  2 - p. 186-195 , 2023
Link: https://doi.org/10.1136/..
 
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6

An early onset cone dystrophy due to CEP290 mutation: a cas..:

Binder, Anastasia ; Kohl, Susanne ; Grasshoff, Ute..
Documenta Ophthalmologica.  147 (2023)  3 - p. 203-209 , 2023
Link: https://doi.org/10.1007/..
 
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7

PHIP-associated Chung-Jansen syndrome: Report of 23 new ind..:

Kampmeier, Antje ; Leitão, Elsa ; Parenti, Ilaria...
Frontiers in Cell and Developmental Biology.  10 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

A single center experience of prenatal parent‐fetus trio ex..:

Dufke, Andreas ; Hoopmann, Markus ; Waldmüller, Stephan...
Prenatal Diagnosis.  42 (2022)  7 - p. 901-910 , 2022
Link: https://doi.org/10.1002/..
 
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9

Phenotypic characterization of seven individuals with Marba..:

Marbach, Felix ; Lipska‐Ziętkiewicz, Beata S. ; Knurowska, Agata...
American Journal of Medical Genetics Part A.  188 (2022)  9 - p. 2627-2636 , 2022
Link: https://doi.org/10.1002/..
 
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10

Isolated cytokine‐enriched pericardial effusion: A likely k..:

König, Anna‐Lina ; Sabir, Hemmen ; Strizek, Brigitte...
American Journal of Medical Genetics Part A.  188 (2021)  2 - p. 624-627 , 2021
Link: https://doi.org/10.1002/..
 
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11

The Role of Neuroimaging and Genetic Analysis in the Diagno..:

Horber, Veronka ; Grasshoff, Ute ; Sellier, Elodie...
Frontiers in Neurology.  11 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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12

Bi-allelic loss-of-function variants inKIF21Acause severe f..:

Falb, Ruth J ; Müller, Amelie J ; Klein, Wolfram...
Journal of Medical Genetics.  60 (2021)  1 - p. 48-56 , 2021
Link: https://doi.org/10.1136/..
 
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13

Clinico‐Genetic, Imaging and Molecular Delineation of COQ8A..:

Traschütz, Andreas ; Schirinzi, Tommaso ; Laugwitz, Lucia...
Annals of Neurology.  88 (2020)  2 - p. 251-263 , 2020
Link: https://doi.org/10.1002/..
 
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14

Further evidence for complex inheritance of holoprosencepha..:

Hinreiner, Sophie ; Wieczorek, Dagmar ; Mueller, Dietmar...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics.  178 (2018)  2 - p. 198-205 , 2018
Link: https://doi.org/10.1002/..
 
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15

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead ..:

Frints, Suzanna G. M. ; Ozanturk, Aysegul ; Rodríguez Criado, Germán...
Molecular Psychiatry.  24 (2018)  11 - p. 1748-1768 , 2018
Link: https://doi.org/10.1038/..
 
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