E-LIB Suche - Ergebnisse für: Cobben, Jan Maarten

1

Expression Quantitative Trait Methylation Analysis Identifi..:

Krzyzewska, Izabela M. ; Lauffer, Peter ; Mul, Adri N....
International Journal of Molecular Sciences. 24 (2023) 7 - p. 6601 , 2023

Link: https://doi.org/10.3390/..

2

DNA Methylation Abundantly Associates with Fetal Alcohol Sp..:

Cobben, Jan Maarten ; Krzyzewska, Izabela M ; Venema, Andrea...
Epigenomics. 11 (2019) 7 - p. 767-785 , 2019

Link: https://doi.org/10.2217/..

3

Trisomy 4 mosaicism: Delineation of the phenotype:

Bouman, Arjan ; van der Kevie‐Kersemaekers, Anne‐Marie ; Huijsdens‐van Amsterdam, Karin...
American Journal of Medical Genetics Part A. 170 (2016) 4 - p. 1040-1045 , 2016

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

4

Complete and partial XYLT1 deletion in a patient with neona..:

van Koningsbruggen, Silvana ; Knoester, Hennie ; Bakx, Roel...
American Journal of Medical Genetics Part A. 170 (2015) 2 - p. 510-514 , 2015

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

5

Congenital thrombocytopenia in a neonate with an interstiti..:

Bouman, Arjan ; Knegt, Lia ; Gröschel, Stefan...
American Journal of Medical Genetics Part A. 170 (2015) 2 - p. 504-509 , 2015

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

6

Etiology and pathogenesis of robin sequence in a large Dutc..:

Basart, Hanneke ; Paes, Emma C. ; Maas, Saskia M....
American Journal of Medical Genetics Part A. 167 (2015) 9 - p. 1983-1992 , 2015

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

7

Diagnostic outcomes of 27 children referred by pediatrician..:

Abdelmalik, Nadia ; van Haelst, Mieke ; Mancini, Grazia...
American Journal of Medical Genetics Part A. 161 (2013) 2 - p. 254-260 , 2013

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

8

Clinical and Mutational Characteristics of SMARD1 Patients ..:

Stalpers, Xenia ; Verrips, Aad ; Poll-The, Bwee-Tien...
Neurology. 80 (2013) 7_supplement - p. , 2013

Link: https://doi.org/10.1212/..

9

Morphologic abnormalities in 2-year-old children born after..:

Beukers, Fenny ; van der Heide, Maaike ; Middelburg, Karin J....
Fertility and Sterility. 99 (2013) 2 - p. 408-413.e4 , 2013

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

10

Clinical and Mutational Characteristics of SMARD1 Patients ..:

Stalpers, Xenia ; Verrips, Aad ; Poll-The, Bwee-Tien...
Neurology. 80 (2013) 7_supplement - p. , 2013

Link: https://doi.org/10.1212/..

11

Dysmorphic features in 2-year-old IVF/ICSI offspring:

Seggers, Jorien ; Haadsma, Maaike L. ; Bos, Arend F....
Early Human Development. 88 (2012) 10 - p. 823-829 , 2012

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

12

Beare-Stevenson Syndrome: Two Dutch Patients With Cerebral ..:

Barge-Schaapveld, Daniela Q.C.M. ; Brooks, Alice S. ; Lequin, Maarten H....
Pediatric Neurology. 44 (2011) 4 - p. 303-307 , 2011

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

13

Response:

Cobben, Jan Maarten ; de Visser, Marianne
Neuromuscular Disorders. 19 (2009) 1 - p. 76 , 2009

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

14

Ectrodactyly with fibular aplasia: A separate entity?:

Menke, Leonie A. ; Bijlsma, Emilia K. ; van Essen, Anthonie J....
European Journal of Medical Genetics. 51 (2008) 5 - p. 488-496 , 2008

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

15

Congenital heart defects in spinal muscular atrophy type I:..:

Menke, Leonie A. ; Poll‐The, Bwee Tien ; Clur, Sally‐Ann...
American Journal of Medical Genetics Part A. 146A (2008) 6 - p. 740-744 , 2008

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