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Schaper, Jörg
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1

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Mu..:

Schmetz, Ariane ; Schaper, Jörg ; Thelen, Simon...
Genes.  14 (2023)  3 - p. 724 , 2023
Link: https://doi.org/10.3390/..
 
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2

The Growing Spectrum of DADA2 Manifestations—Diagnostic and..:

Escherich, Carolin ; Bötticher, Benedikt ; Harmsen, Stefani...
Frontiers in Pediatrics.  10 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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3

Phänotypische Vielfalt bei Varianten im TP63‐Gen:

Schmetz, Ariane ; Xiong, Xing ; Cesarato, Nicole...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft.  20 (2022)  6 - p. 871-875 , 2022
Link: https://doi.org/10.1111/..
 
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4

Phenotype diversity associated with TP63 mutations:

Schmetz, Ariane ; Xiong, Xing ; Cesarato, Nicole...
JDDG: Journal der Deutschen Dermatologischen Gesellschaft.  20 (2022)  6 - p. 872-875 , 2022
Link: https://doi.org/10.1111/..
 
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5

Novel EXOSC3 pathogenic variant results in a mild course of..:

Le Duc, Diana ; Horn, Susanne ; Jamra, Rami Abou...
European Journal of Medical Genetics.  63 (2020)  2 - p. 103649 , 2020
Link: https://doi.org/10.1016/..
 
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6

QRICH1 variants in Ververi‐Brady syndrome—delineation of th..:

Föhrenbach, Melanie ; Jamra, Rami Abou ; Borkhardt, Arndt...
Clinical Genetics.  99 (2020)  1 - p. 199-207 , 2020
Link: https://doi.org/10.1111/..
 
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7

Mutations in SMARCB1 and in other Coffin–Siris syndrome gen..:

Filatova, Alina ; Rey, Linda K. ; Lechler, Marion B....
Nature Communications.  10 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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8

Mutated SON putatively causes a cancer syndrome comprising ..:

Chiu, Celine ; Loth, Stefanie ; Kuhlen, Michaela...
Familial Cancer.  18 (2019)  3 - p. 353-358 , 2019
Link: https://doi.org/10.1007/..
 
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9

Biallelic mutation of humanSLC6A6encoding the taurine trans..:

Preising, Markus N. ; Görg, Boris ; Friedburg, Christoph...
The FASEB Journal.  33 (2019)  10 - p. 11507-11527 , 2019
Link: https://doi.org/10.1096/..
 
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10

Lymphnode tuberculosis in a 4-year-old boy with relapsed ga..:

van de Loo, Karoline ; Balzer, Stefan ; MacKenzie, Colin R....
BMC Infectious Diseases.  18 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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11

Age-related apparent diffusion coefficients of lumbar verte..:

Tschischka, Alexander ; Schleich, Christoph ; Boos, Johannes...
Pediatric Radiology.  48 (2018)  7 - p. 1008-1012 , 2018
Link: https://doi.org/10.1007/..
 
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12

Variants in CPLX1 in two families with autosomal-recessive ..:

Redler, Silke ; Strom, Tim M ; Wieland, Thomas...
European Journal of Human Genetics.  25 (2017)  7 - p. 889-893 , 2017
Link: https://doi.org/10.1038/..
 
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13

The many faces of paediatric mitochondrial disease on neuro..:

Baertling, Fabian ; Klee, Dirk ; Haack, Tobias B....
Child's Nervous System.  32 (2016)  11 - p. 2077-2083 , 2016
Link: https://doi.org/10.1007/..
 
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14

Neonatal encephalocardiomyopathy caused by mutations in VAR..:

Baertling, Fabian ; Alhaddad, Bader ; Seibt, Annette...
Metabolic Brain Disease.  32 (2016)  1 - p. 267-270 , 2016
Link: https://doi.org/10.1007/..
 
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15

De novo PIK3R1 gain-of-function with recurrent sinopulmonar..:

Kuhlen, Michaela ; Hönscheid, Andrea ; Loizou, Loizos...
Clinical Immunology.  162 (2016)  - p. 27-30 , 2016
Link: https://doi.org/10.1016/..
 
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