E-LIB Suche - Ergebnisse für: Krabichler, Birgit

1

SYNE1-ataxia: Novel genotypic and phenotypic findings:

Indelicato, Elisabetta ; Nachbauer, Wolfgang ; Fauth, Christine...
Parkinsonism & Related Disorders. 62 (2019) - p. 210-214 , 2019

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

2

A further case of familial ring chromosome 20 mosaicism - m..:

Unterberger, Iris ; Dobesberger, Judith ; Schober, Harald...
European Journal of Medical Genetics. 62 (2019) 11 - p. 103564 , 2019

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

3

Unknown mutations and genotype/phenotype correlations of au..:

Lima Cunha, Dulce ; Alakloby, Omar Mohammed ; Gruber, Robert...
Molecular Genetics & Genomic Medicine. 7 (2019) 3 - p. , 2019

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

4

MPV17 mutations in juvenile‐ and adult‐onset axonal sensori..:

Baumann, Matthias ; Schreiber, Herbert ; Schlotter‐Weigel, Beate...
Clinical Genetics. 95 (2018) 1 - p. 182-186 , 2018

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

5

Homozygous SYNE1 mutation causes congenital onset of muscul..:

Baumann, Matthias ; Steichen-Gersdorf, Elisabeth ; Krabichler, Birgit...
European Journal of Human Genetics. 25 (2016) 2 - p. 262-266 , 2016

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

6

MBTPS2 mutations cause defective regulated intramembrane pr..:

Lindert, Uschi ; Cabral, Wayne A. ; Ausavarat, Surasawadee...
Nature Communications. 7 (2016) 1 - p. , 2016

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

7

Clinical, cytogenetic, and molecular findings in a patient ..:

Rittinger, Olaf ; Krabichler, Birgit ; Kronberger, Gabriela.
European Journal of Medical Genetics. 58 (2015) 11 - p. 603-607 , 2015

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

8

The phenotype of the musculocontractural type of Ehlers‐Dan..:

Janecke, Andreas R. ; Li, Ben ; Boehm, Manfred...
American Journal of Medical Genetics Part A. 170 (2015) 1 - p. 103-115 , 2015

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

9

Severe growth retardation, delayed bone age, and facial dys..:

Blassnig‐Ezeh, Anya ; Bandelier, Claude ; Frühmesser, Anne...
American Journal of Medical Genetics Part A. 161 (2013) 12 - p. 3176-3181 , 2013

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

10

Novel Mutation in Potassium Channel related Gene KCTD7 and ..:

Krabichler, Birgit ; Rostasy, Kevin ; Baumann, Matthias...
Annals of Human Genetics. 76 (2012) 4 - p. 326-331 , 2012

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

11

Macrostomia, thin upper vermilion border, long philtrum, br..:

Nampoothiri, Sheela ; Kuthiroly, Shwetha ; Fauth, Christine...
American Journal of Medical Genetics Part A. 155 (2011) 10 - p. 2465-2468 , 2011

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

12

Unknown mutations and genotype/phenotype correlations of au..:

Lima Cunha, Dulce ; Alakloby, Omar Mohammed ; Gruber, Robert...
Lima Cunha , D , Alakloby , O M , Gruber , R , Kakar , N , Ahmad , J , Alawbathani , S , Plank , R , Eckl , K , Krabichler , B , Altmüller , J , Nürnberg , P , Zschocke , J , Borck , G , Schmuth , M , Alabdulkareem , A S , Abdulaziz Alnutaifi , K & Hennies , H C 2019 , ' Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan ' , Molecular genetics & genomic medicine , vol. 7 , no. 3 , e539 , pp. e539 . https://doi.org/10.1002/mgg3.539. , 2019

Link: https://pure.hud.ac.uk/e..

13

Unknown mutations and genotype/phenotype correlations of au..:

Cunha, Dulce Lima ; Alakloby, Omar Mohammed ; Gruber, Robert...
http://repository.edgehill.ac.uk/11016/1/Cunha_et_al-2019-Molecular_Genetics__Genomic_Medicine%20%281%29.pdf. , 2019

Link: http://repository.edgehi..

14

Unknown mutations and genotype/phenotype correlations of au..:

Lima Cunha, Dulce ; Alakloby, Omar Mohammed ; Gruber, Robert...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418373/. , 2019

Link: http://www.ncbi.nlm.nih...

15

Homozygous SYNE1 mutation causes congenital onset of muscul..:

Baumann, Matthias ; Steichen-Gersdorf, Elisabeth ; Krabichler, Birgit...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5255944/. , 2017

Link: http://www.ncbi.nlm.nih...