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Bartholdi, Deborah
74  results:
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1

LEMD2‐associated progeroid syndrome: Expanding the phenotyp..:

Matter, Alyssia ; Kaufman, Christina ; Zürcher, Nadia...
Aging Cell.  , 2024
Link: https://doi.org/10.1111/..
 
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2

Precision treatment of Singleton Merten syndrome with ruxol..:

Broser, Philip ; von Mengershausen, Ursula ; Heldt, Katrin...
Pediatric Rheumatology.  20 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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3

Identification and functional analysis of two new de novo K..:

Liang, Lina ; Liu, Huihui ; Bartholdi, Deborah...
Acta Physiologica.  235 (2022)  1 - p. , 2022
Link: https://doi.org/10.1111/..
 
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4

Pathogenic mosaic variants in congenital hypogonadotropic h..:

Acierno, James S. ; Xu, Cheng ; Papadakis, Georgios E....
Genetics in Medicine.  22 (2020)  11 - p. 1759-1767 , 2020
Link: https://doi.org/10.1038/..
 
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5

Functional characterization of a novel SCN5A variant associ..:

Neubauer, Jacqueline ; Wang, Zizun ; Rougier, Jean-Sébastien...
International Journal of Legal Medicine.  133 (2019)  6 - p. 1733-1742 , 2019
Link: https://doi.org/10.1007/..
 
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6

Evaluating CHARGE syndrome in congenital hypogonadotropic h..:

Xu, Cheng ; Cassatella, Daniele ; van der Sloot, Almer M....
Genetics in Medicine.  20 (2018)  8 - p. 872-881 , 2018
Link: https://doi.org/10.1038/..
 
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7

Prenatal diagnosis of diaphanospondylodysostosis (DSD): a c..:

Hofstaetter, Cornelia ; Courage, Carolina ; Bartholdi, Deborah..
Clinical Case Reports.  6 (2018)  2 - p. 420-425 , 2018
Link: https://doi.org/10.1002/..
 
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8

Clinical and experimental evidence suggest a link between K..:

Asadollahi, Reza ; Strauss, Justin E ; Zenker, Martin...
European Journal of Human Genetics.  26 (2018)  2 - p. 197-209 , 2018
Link: https://doi.org/10.1038/..
 
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9

Entwicklung der genetischen und genomischen Medizin in der ..:

Filges, Isabel ; Bartholdi, Deborah ; Cichon, Sven...
Schweizerische Ärztezeitung.  , 2018
Link: https://doi.org/10.4414/..
 
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10

Characterization of two novel intronic OPA1 mutations resul..:

Bolognini, Ramona ; Gerth-Kahlert, Christina ; Abegg, Mathias...
BMC Medical Genetics.  18 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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11

Late‐onset severe long QT syndrome:

Asatryan, Babken ; Schaller, André ; Bartholdi, Deborah.
Annals of Noninvasive Electrocardiology.  23 (2017)  4 - p. , 2017
Link: https://doi.org/10.1111/..
 
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12

Delineating theGRIN1phenotypic spectrum: A distinct genetic..:

Lemke, Johannes R. ; Geider, Kirsten ; Helbig, Katherine L....
Neurology.  86 (2016)  23 - p. 2171-2178 , 2016
Link: https://doi.org/10.1212/..
 
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13

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neu..:

Di Donato, Nataliya ; Jean, Ying Y. ; Maga, A. Murat...
The American Journal of Human Genetics.  99 (2016)  5 - p. 1117-1129 , 2016
Link: https://doi.org/10.1016/..
 
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14

Coronin 1 Regulates Cognition and Behavior through Modulati..:

Jayachandran, Rajesh ; Liu, Xiaolong ; BoseDasgupta, Somdeb...
PLoS Biology.  12 (2014)  3 - p. e1001820 , 2014
Link: https://doi.org/10.1371/..
 
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15

GRIN2B mutations in west syndrome and intellectual disabili..:

Lemke, Johannes R. ; Hendrickx, Rik ; Geider, Kirsten...
Annals of Neurology.  75 (2014)  1 - p. 147-154 , 2014
Link: https://doi.org/10.1002/..
 
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