I agree that this site is using cookies. You can find further informations here.
X
Gaspar, Harald
68  results:
Search for persons X
?
1

De novo variants predicting haploinsufficiency for DIP2C ar..:

Ha, Thoa ; Morgan, Angela ; Bartos, Meghan N....
American Journal of Medical Genetics Part A.  194 (2024)  7 - p. , 2024
Link: https://doi.org/10.1002/..
 
?
2

Genetic landscape of pediatric acute liver failure of indet..:

Lenz, Dominic ; Schlieben, Lea D. ; Shimura, Masaru...
Hepatology.  79 (2023)  5 - p. 1075-1087 , 2023
Link: https://doi.org/10.1097/..
 
?
3

4.7 Mb deletion encompassing TGFB2 associated with features..:

Gaspar, Harald ; Lutz, Bernd ; Reicherter, Kerstin...
American Journal of Medical Genetics Part A.  173 (2017)  8 - p. 2289-2292 , 2017
Link: https://doi.org/10.1002/..
 
?
4

Genetic dosage compensation via co-occurrence ofPMP22duplic..:

Hirt, Nina ; Eggermann, Katja ; Hyrenbach, Sonja...
Neurology.  84 (2015)  15 - p. 1605-1606 , 2015
Link: https://doi.org/10.1212/..
 
?
5

Characterization of ocular motor deficits in congenital fac..:

Rucker, Janet C. ; Webb, Bryn D. ; Frempong, Tamiesha...
Brain.  137 (2014)  4 - p. 1068-1079 , 2014
Link: https://doi.org/10.1093/..
 
?
6

Mirror Movements Identified in Patients with Moebius Syndro..:

Webb, Bryn D. ; Frempong, Tamiesha ; Naidich, Thomas P....
Tremor and Other Hyperkinetic Movements.  4 (2014)  0 - p. 256 , 2014
Link: https://doi.org/10.5334/..
 
?
7

The phenotypic spectrum of duplication 5q35.2–q35.3 encompa..:

Dikow, Nicola ; Maas, Bianca ; Gaspar, Harald...
American Journal of Medical Genetics Part A.  161 (2013)  9 - p. 2158-2166 , 2013
Link: https://doi.org/10.1002/..
 
?
8

The molecular basis of EPCAM expression loss in Lynch syndr..:

Huth, Cathrin ; Kloor, Matthias ; Voigt, Anita Y...
Modern Pathology.  25 (2012)  6 - p. 911-916 , 2012
Link: https://doi.org/10.1038/..
 
?
9

Hepatoblastoma in two siblings and familial adenomatous pol..:

Evers, Christina ; Gaspar, Harald ; Kloor, Matthias...
Familial Cancer.  11 (2012)  3 - p. 529-533 , 2012
Link: https://doi.org/10.1007/..
 
?
10

Identification and functional characterization of the novel..:

Aidery, Parwez ; Kisselbach, Jana ; Gaspar, Harald...
Biochemical and Biophysical Research Communications.  418 (2012)  4 - p. 830-835 , 2012
Link: https://doi.org/10.1016/..
 
?
11

A spectrum of LMX1B mutations in Nail-Patella syndrome: New..:

Marini, Monica ; Bocciardi, Renata ; Gimelli, Stefania...
Genetics in Medicine.  12 (2010)  7 - p. 431-439 , 2010
Link: https://doi.org/10.1097/..
 
?
12

Clinical delineation of Giuffrè–Tsukahara syndrome: Another..:

Gaspar, Harald ; Albermann, Kurt ; Baumer, Alessandra.
American Journal of Medical Genetics Part A.  146A (2008)  11 - p. 1453-1457 , 2008
Link: https://doi.org/10.1002/..
 
?
13

Prenatal diagnosis of autosomal recessive polycystic kidney..:

Gaspar, Harald ; Michel‐Calemard, Laurence ; Morel, Yves...
Prenatal Diagnosis.  26 (2006)  4 - p. 392-393 , 2006
Link: https://doi.org/10.1002/..
 
?
14

Cutaneous squamous cell carcinoma in an autosomal‐recessive..:

Lukas, Meyer‐Landolt ; Harald, Gaspar ; Sanz, Javier...
American Journal of Medical Genetics Part A.  188 (2022)  11 - p. 3318-3323 , 2022
Link: https://doi.org/10.1002/..
 
?
15

Genetic landscape of pediatric acute liver failure of indet..:

Lenz, Dominic ; Schlieben, Lea ; Shimura, Masaru...
info:eu-repo/semantics/altIdentifier/doi/10.1097/HEP.0000000000000684.  , 2023
Link: https://hal.inrae.fr/hal..
 
1-15