E-LIB Suche - Ergebnisse für: Tümer, Z.

1

P386 Molecular biomarkers in myotonic dystrophy type 1:

Slipsager, A. ; Hildonen, M. ; Stemmerik, M Godtfeldt...
Neuromuscular Disorders. 33 (2023) - p. S155 , 2023

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

2

Clinician's guide to genes associated with Rett‐like phenot..:

Schönewolf‐Greulich, B. ; Bisgaard, A‐M. ; Møller, R.S....
Clinical Genetics. 95 (2018) 2 - p. 221-230 , 2018

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

3

A 37‐year‐old Menkes disease patient—Residual ATP7A activit..:

Tümer, Z. ; Petris, M. ; Zhu, S....
Clinical Genetics. 92 (2017) 5 - p. 548-553 , 2017

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

4

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/..

5

A novelRAD21variant associated with intrafamilial phenotypi..:

Boyle, M.I. ; Jespersgaard, C. ; Nazaryan, L...
Clinical Genetics. 91 (2016) 4 - p. 647-649 , 2016

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

6

Recent Advances in Imprinting Disorders:

Soellner, L. ; Begemann, M. ; Mackay, D.J.G....
Clinical Genetics. 91 (2016) 1 - p. 3-13 , 2016

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

7

Response to Dylan Mordaunt and Alisha McLauchlan:

Boyle, M. I. ; Tümer, Z.
Clinical Genetics. 88 (2015) 1 - p. 99-100 , 2015

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

8

Cornelia de Lange syndrome:

Boyle, M.I. ; Jespersgaard, C. ; Brøndum‐Nielsen, K...
Clinical Genetics. 88 (2014) 1 - p. 1-12 , 2014

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

9

X-linked congenital ptosis and associated intellectual disa..:

Møller, R. S. ; Jensen, L. R. ; Maas, S. M....
Human Genetics. 133 (2013) 5 - p. 625-638 , 2013

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

10

SLC26A4mutation frequency and spectrum in 109 Danish Pendre..:

Rendtorff, ND ; Schrijver, I ; Lodahl, M...
Clinical Genetics. 84 (2013) 4 - p. 388-391 , 2013

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

11

A homozygous mutation in a consanguineous family consolidat..:

Roos, L. ; Fang, M. ; Dali, C....
Clinical Genetics. 86 (2013) 3 - p. 276-281 , 2013

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

12

RETRACTED: ATCG – An Applied Theory for Human MoleCular Gen..:

, In: The Mereon Matrix,

McNair, J. Brender ; McNair, P. ; Dennis, L.. - p. 347-516 , 2013

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

13

RETRACTED: List of Contributors:

, In: The Mereon Matrix,

Dennis, L. ; Kauffman, L.H. ; McNair, J. Brender... - p. xvii , 2013

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

14

Deletion of CUL4B leads to concordant phenotype in a monozy..:

Ravn, K ; Lindquist, SG ; Nielsen, K..
Clinical Genetics. 82 (2012) 3 - p. 292-294 , 2012

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

15

Genome‐wide Gene Expression Profiling of SCID Mice with T‐c..:

Brudzewsky, D. ; Pedersen, A. E. ; Claesson, M. H....
Scandinavian Journal of Immunology. 69 (2009) 5 - p. 437-446 , 2009

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