E-LIB Suche - Ergebnisse für: Varon, Raymonda

1

The NBN founder mutation—Evidence for a country specific di..:

Chrzanowska, Krystyna H. ; Seemanova, Eva ; Varon, Raymonda...
Cancer Reports. 6 (2022) 2 - p. , 2022

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

2

Transmission ratio distortion of mutations in the master re..:

Neitzel, Heidemarie ; Varon, Raymonda ; Chughtai, Sana...
Human Genetics. 141 (2022) 11 - p. 1785-1794 , 2022

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

3

Investigating the effects of additional truncating variants..:

Sepahi, Ilnaz ; Faust, Ulrike ; Sturm, Marc...
BMC Cancer. 19 (2019) 1 - p. , 2019

Link: https://doi.org/10.1186/..

4

Yeast XRS2 and human NBN gene: Experimental evidence for ho..:

Demuth, Ilja ; Krebs, Simon K. ; Dutrannoy, Véronique...
PLOS ONE. 13 (2018) 11 - p. e0207315 , 2018

Link: https://doi.org/10.1371/..

5

The Slavic NBN Founder Mutation: A Role for Reproductive Fi..:

Seemanova, Eva ; Varon, Raymonda ; Vejvalka, Jan...
PLOS ONE. 11 (2016) 12 - p. e0167984 , 2016

Link: https://doi.org/10.1371/..

6

QF-PCR as a molecular-based method for autosomal aneuploidi..:

Moftah, Reham ; Marzouk, Salah ; El-Kaffash, Dalal...
Advances in Reproductive Sciences. 1 (2013) 3 - p. 21-28 , 2013

Link: https://doi.org/10.4236/..

7

A 17‐year‐old adolescent with anorexia and gait abnormaliti..:

Meyer, Sascha ; Gortner, Ludwig ; Varon, Raymonda...
Acta Paediatrica. 101 (2012) 9 - p. , 2012

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

8

New mutations in the ATM gene and clinical data of 25 AT pa..:

Demuth, Ilja ; Dutrannoy, Véronique ; Marques Jr, Wilson...
neurogenetics. 12 (2011) 4 - p. 273-282 , 2011

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

9

Clinical variability and novel mutations in the NHEJ1 gene ..:

Dutrannoy, Véronique ; Demuth, Ilja ; Baumann, Ulrich...
Human Mutation. 31 (2010) 9 - p. 1059-1068 , 2010

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

10

Fatal Cardiac Arrhythmia and Long-QT Syndrome in a New Form..:

Rajab, Anna ; Straub, Volker ; McCann, Liza J....
PLoS Genetics. 6 (2010) 3 - p. e1000874 , 2010

Link: https://doi.org/10.1371/..

11

Genetic variants within miR-126 and miR-335 are not associa..:

Yang, Rongxi ; Dick, Michelle ; Marme, Frederik...
Breast Cancer Research and Treatment. 127 (2010) 2 - p. 549-554 , 2010

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

12

Human RAD50 deficiency in a Nijmegen breakage syndrome-like..:

, In: American journal of human genetics / American Society of Human Genetics

Waltes, Regina ; Gatei, Magtouf ; Kijas, Amanda W..... (2009) 5 - p. 605-616

Copies: Zentrale: z hbi 820 jc/81; Zentrale:Magazin Zs fb 2581

13

A genetic variant in the pre-miR-27a oncogene is associated..:

Yang, Rongxi ; Schlehe, Bettina ; Hemminki, Kari...
Breast Cancer Research and Treatment. 121 (2009) 3 - p. 693-702 , 2009

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

14

Clinical variability in distal spinal muscular atrophy type..:

Guenther, Ulf-Peter ; Handoko, Lusy ; Varon, Raymonda...
Journal of Molecular Medicine. 87 (2008) 1 - p. 31-41 , 2008

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

15

Clinical and mutational profile in spinal muscular atrophy ..:

Guenther, Ulf-Peter ; Varon, Raymonda ; Schlicke, Maria...
Human Mutation. 28 (2007) 8 - p. 808-815 , 2007

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