E-LIB Suche - Ergebnisse für: Elcioglu, Nursel

1

Developmental genomics of limb malformations: Allelic serie..:

Duan, Ruizhi ; Hijazi, Hadia ; Gulec, Elif Yilmaz...
Human Genetics and Genomics Advances. 3 (2022) 4 - p. 100132 , 2022

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

2

Genome sequencing in families with congenital limb malforma..:

Elsner, Jonas ; Mensah, Martin A. ; Holtgrewe, Manuel...
Human Genetics. 140 (2021) 8 - p. 1229-1239 , 2021

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

3

High prevalence of multilocus pathogenic variation in neuro..:

Mitani, Tadahiro ; Isikay, Sedat ; Gezdirici, Alper...
The American Journal of Human Genetics. 108 (2021) 10 - p. 1981-2005 , 2021

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

4

Correction: The genomic and clinical landscape of fetal aki..:

Pergande, Matthias ; Motameny, Susanne ; Özdemir, Özkan...
Genetics in Medicine. 22 (2020) 8 - p. 1426-1428 , 2020

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

5

The genomic and clinical landscape of fetal akinesia:

Pergande, Matthias ; Motameny, Susanne ; Özdemir, Özkan...
Genetics in Medicine. 22 (2020) 3 - p. 511-523 , 2020

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

6

Exome sequencing reveals novel candidate genes and potentia..:

Pehlivan, Davut ; Bayram, Yavuz ; Akdemir, Zeynep Coban...
Neurology. 92 (2019) 15_supplement - p. , 2019

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

7

The ARID1B spectrum in 143 patients: from nonsyndromic inte..:

van der Sluijs, Pleuntje J. ; Jansen, Sandra ; Vergano, Samantha A....
Genetics in Medicine. 21 (2019) 6 - p. 1295-1307 , 2019

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

8

Correction: The ARID1B spectrum in 143 patients: from nonsy..:

van der Sluijs, Pleuntje J. ; Jansen, Sandra ; Vergano, Samantha A....
Genetics in Medicine. 21 (2019) 9 - p. 2160-2161 , 2019

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

9

Back Cover, Volume 40, Issue 8:

Martins, Carla ; de Medeiros, Paula Frassinetti V. ; Leistner-Segal, Sandra...
Human Mutation. 40 (2019) 8 - p. ii-ii , 2019

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

10

Ptosis as a unique hallmark for autosomal recessive WNT1‐as..:

Nampoothiri, Sheela ; Guillemyn, Brecht ; Elcioglu, Nursel...
American Journal of Medical Genetics Part A. 179 (2019) 6 - p. 908-914 , 2019

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

11

Molecular characterization of a large group of Mucopolysacc..:

Martins, Carla ; de Medeiros, Paula Frassinetti V. ; Leistner-Segal, Sandra...
Human Mutation. 40 (2019) 8 - p. 1084-1100 , 2019

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

12

Correction: Loss of the BMP Antagonist, SMOC-1, Causes Opht..:

Rainger, Joe ; van Beusekom, Ellen ; Ramsay, Jacqueline K....
PLOS Genetics. 14 (2018) 12 - p. e1007866 , 2018

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

13

Rothmund-Thomson Syndrome: Insights from New Patients on th..:

Colombo, Elisa ; Locatelli, Andrea ; Cubells Sánchez, Laura...
International Journal of Molecular Sciences. 19 (2018) 4 - p. 1103 , 2018

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

14

Mutation spectrum and haplotype study of mucopolysaccharido..:

Martins, Carla ; de Medeiros, Paula Frassinetti ; Leistner-Segal, Sandra...
Molecular Genetics and Metabolism. 120 (2017) 1-2 - p. S92 , 2017

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

15

Novel EYA1 variants causing Branchio-oto-renal syndrome:

Klingbeil, Kyle D. ; Greenland, Christopher M. ; Arslan, Selcuk...
International Journal of Pediatric Otorhinolaryngology. 98 (2017) - p. 59-63 , 2017

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