E-LIB Suche - Ergebnisse für: Pfundt, R.

1

De novo variants in MED12 cause X-linked syndromic neurodev..:

Polla, D.L. ; Bhoj, E.J. ; Verheij, J.B.G.M....
Genetics in Medicine. 23 (2021) 4 - p. 645-652 , 2021

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

2

De novo variants in CDK13 associated with syndromic ID/DD: ..:

van den Akker, W.M.R. ; Brummelman, I. ; Martis, L.M....
Clinical Genetics. 93 (2018) 5 - p. 1000-1007 , 2018

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

3

Okur‐Chung neurodevelopmental syndrome: Eight additional ca..:

Chiu, A.T.G. ; Pei, S.L.C. ; Mak, C.C.Y....
Clinical Genetics. 93 (2018) 4 - p. 880-890 , 2018

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

4

De novo variants in KLF7 are a potential novel cause of dev..:

Powis, Z. ; Petrik, I. ; Cohen, J.S....
Clinical Genetics. 93 (2018) 5 - p. 1030-1038 , 2018

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

5

A novel pathogenic mutation in the HIVEP2 gene in a patient..:

Pereira, A.S. ; Rocha, J.C. ; Pfundt, R..
European Journal of Paediatric Neurology. 21 (2017) - p. e47 , 2017

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

6

Variation in a range of mTOR-related genes associates with ..:

Reijnders, M. R. F. ; Kousi, M. ; van Woerden, G. M....
Nature Communications. 8 (2017) 1 - p. , 2017

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

7

The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectua..:

Schönewolf‐Greulich, B. ; Tejada, M.‐I. ; Stephens, K....
Clinical Genetics. 89 (2016) 6 - p. 733-738 , 2016

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

8

De novo loss‐of‐function mutations in X‐linked SMC1A cause ..:

Jansen, S. ; Kleefstra, T. ; Willemsen, M.H....
Clinical Genetics. 90 (2016) 5 - p. 413-419 , 2016

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

9

Identification of new TRIP12 variants and detailed clinical..:

Bramswig, Nuria C. ; Lüdecke, H.-J. ; Pettersson, M....
Human Genetics. 136 (2016) 2 - p. 179-192 , 2016

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

10

'Splitting versus lumping': Temple–Baraitser and Zimmermann..:

Bramswig, Nuria C. ; Ockeloen, C. W. ; Czeschik, J. C....
Human Genetics. 134 (2015) 10 - p. 1089-1097 , 2015

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

11

Pathogenic or not? Assessing the clinical relevance of copy..:

Hehir‐Kwa, JY ; Pfundt, R ; Veltman, JA.
Clinical Genetics. 84 (2013) 5 - p. 415-421 , 2013

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

12

Uniparental disomy (UPD) in the human blastocyst is exceedi..:

Gueye, N.-A. ; Bendarsky, O. ; Devkota, B....
Fertility and Sterility. 100 (2013) 3 - p. S132 , 2013

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

13

32 GENOME WIDE ANALYSIS IDENTIFIES MITOTIC RECOMBINATION AS..:

Janssen, M. ; Pfundt, R. ; Drenth, J.P.H.
Journal of Hepatology. 56 (2012) - p. S14 , 2012

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

14

Congenital myopathy caused by a novel missense mutation in ..:

Ockeloen, C.W. ; Gilhuis, H.J. ; Pfundt, R....
Neuromuscular Disorders. 22 (2012) 7 - p. 632-639 , 2012

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

15

P3.47 Nemaline myopathy caused by a novel missense mutation..:

Ockeloen, C.W. ; Gilhuis, H.J. ; Pfundt, R....
Neuromuscular Disorders. 21 (2011) 9-10 - p. 696 , 2011

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