E-LIB Suche - Ergebnisse für: de Man, Stella A.

1

The phenotypic spectrum and genotype-phenotype correlations..:

Dingemans, Alexander J. M. ; Truijen, Kim M. G. ; van de Ven, Sam...
Translational Psychiatry. 12 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

2

De novo truncatingNOVA2variants affect alternative splicing..:

Scala, Marcello ; Drouot, Nathalie ; MacLennan, Suzanna C....
Human Mutation. 43 (2022) 9 - p. 1299-1313 , 2022

Link: https://doi.org/10.1002/..

3

DLG4-related synaptopathy: a new rare brain disorder:

Rodríguez-Palmero, Agustí ; Boerrigter, Melissa Maria ; Gómez-Andrés, David...
Genetics in Medicine. 23 (2021) 5 - p. 888-899 , 2021

Link: https://doi.org/10.1038/..

4

Molecular analysis of the erythroid phenotype of a patient ..:

Wessels, Marja W. ; Cnossen, Marjon H. ; van Dijk, Thamar B....
Blood Advances. 5 (2021) 9 - p. 2339-2349 , 2021

Link: https://doi.org/10.1182/..

5

Missense and truncating variants in CHD5 in a dominant neur..:

Parenti, Ilaria ; Lehalle, Daphné ; Nava, Caroline...
Human Genetics. 140 (2021) 7 - p. 1109-1120 , 2021

Link: https://doi.org/10.1007/..

6

Expanding Phenotype ofATP1A3- Related Disorders: A Case Ser..:

De Vrieze, Jelena ; van de Laar, Ingrid M.B.H. ; de Rijk-van Andel, Johanneke F....
Child Neurology Open. 8 (2021) - p. 2329048X2110480 , 2021

Link: https://doi.org/10.1177/..

7

The c.1A > C start codon mutation in CLN3 is associated wit..:

Kuper, Willemijn F. E. ; van Alfen, Claudia ; van Eck, Linda...
JIMD Reports. 52 (2020) 1 - p. 23-27 , 2020

Link: https://doi.org/10.1002/..

8

Correction: Broadening the phenotypic spectrum of pathogeni..:

Hollink, Iris H. I. M. ; Alfadhel, Majid ; Al-Wakeel, Anwar S....
Journal of Human Genetics. 63 (2018) 4 - p. 539-539 , 2018

Link: https://doi.org/10.1038/..

9

Automated radiogrammetry is a feasible method for measuring..:

Mergler, Sandra ; de Man, Stella A. ; Boot, Annemieke M....
Pediatric Radiology. 46 (2016) 7 - p. 1017-1022 , 2016

Link: https://doi.org/10.1007/..

10

Black discolouration of urine in two young sisters:

Martens, Tine ; van Gammeren, Adriaan J. ; Huijmans, Jan G.M..
Journal of Paediatrics and Child Health. 52 (2016) 6 - p. 680-681 , 2016

Link: https://doi.org/10.1111/..

11

Phenotype and genotype in 103 patients with tricho-rhino-ph..:

Maas, Saskia M. ; Shaw, Adam C. ; Bikker, Hennie...
European Journal of Medical Genetics. 58 (2015) 5 - p. 279-292 , 2015

Link: https://doi.org/10.1016/..

12

Broadening the phenotypic spectrum of pathogenic LARP7 vari..:

Hollink, Iris HIM ; Alfadhel, Majid ; Al-Wakeel, Anwar S...
Journal of Human Genetics. 61 (2015) 3 - p. 229-233 , 2015

Link: https://doi.org/10.1038/..

13

Phenotypic variability of atypical 22q11.2 deletions not in..:

Verhagen, Judith M.A. ; Diderich, Karin E.M. ; Oudesluijs, Grétel...
American Journal of Medical Genetics Part A. 158A (2012) 10 - p. 2412-2420 , 2012

Link: https://doi.org/10.1002/..

14

Epidemiology of low bone mineral density and fractures in c..:

MERGLER, SANDRA ; EVENHUIS, HELEEN M ; BOOT, ANNEMIEKE M...
Developmental Medicine & Child Neurology. 51 (2009) 10 - p. 773-778 , 2009

Link: https://doi.org/10.1111/..

15

A familial inverted duplication 2q33–q34 identified and del..:

Eussen, Bert H. ; van de Laar, Ingrid ; Douben, Hannie...
European Journal of Medical Genetics. 50 (2007) 2 - p. 112-119 , 2007

Link: https://doi.org/10.1016/..