E-LIB Suche - Ergebnisse für: Graul‐Neumann, L

1

More evidence on TRIO missense mutations in the spectrin re..:

Kloth, K. ; Graul-Neumann, L. ; Hermann, K....
neurogenetics. 22 (2021) 3 - p. 221-224 , 2021

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

2

Broadening of cohesinopathies: exome sequencing identifies ..:

Parenti, I. ; Gervasini, C. ; Pozojevic, J....
Clinical Genetics. 89 (2015) 1 - p. 74-81 , 2015

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

3

Novel mutations of the PRKAR1A gene in patients with acrody..:

Muhn, F ; Klopocki, E ; Graul‐Neumann, L...
Clinical Genetics. 84 (2013) 6 - p. 531-538 , 2013

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

4

Fusionsdefizite der Gesichtsmitte und Fehlentwicklungen des..:

Adolphs, N. ; Haberl, H. ; Graul-Neumann, L...
Der MKG-Chirurg. 6 (2013) 1 - p. 36-39 , 2013

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

5

Kraniofaziale und humeroradiale Synostosen: Kardinalsymptom..:

Adolphs, N. ; Klein, M. ; Haberl, H....
Der MKG-Chirurg. 4 (2011) 3 - p. 213-216 , 2011

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

6

A novel missense variant of SCN4A co‐segregates with congen..:

Asif, Maria ; Mocanu, Ionut Dragos ; Abdullah, Uzma...
American Journal of Medical Genetics Part A. 188 (2021) 4 - p. 1251-1258 , 2021

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

7

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/..

8

Skeletal abnormalities are common features in Aymé‐Gripp sy..:

Niceta, Marcello ; Barbuti, Domenico ; Gupta, Neerja...
Clinical Genetics. 97 (2019) 2 - p. 362-369 , 2019

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

9

PEDIA: prioritization of exome data by image analysis:

Hsieh, Tzung-Chien ; Mensah, Martin A. ; Pantel, Jean T....
Genetics in Medicine. 21 (2019) 12 - p. 2807-2814 , 2019

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

10

Novel mosaic variants in two patients with Cornelia de Lang..:

Pozojevic, Jelena ; Parenti, Ilaria ; Graul-Neumann, Luitgard...
European Journal of Medical Genetics. 61 (2018) 11 - p. 680-684 , 2018

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

11

Formation of upd(7)mat by trisomic rescue: SNP array typing..:

Chantot-Bastaraud, Sandra ; Stratmann, Svea ; Brioude, Frédéric...
Molecular Cytogenetics. 10 (2017) 1 - p. , 2017

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

12

Oral manifestations, dental management, and a rare homozygo..:

Elhennawy, Karim ; Reda, Seif ; Finke, Christian...
Journal of Medical Case Reports. 11 (2017) 1 - p. , 2017

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

13

Phenotype and genotype in patients with Larsen syndrome: cl..:

Girisha, Katta Mohan ; Bidchol, Abdul Mueed ; Graul-Neumann, Luitgard...
BMC Medical Genetics. 17 (2016) 1 - p. , 2016

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

14

Erratum: Corrigendum: Transcriptional regulator PRDM12 is e..:

Chen, Ya-Chun ; Auer-Grumbach, Michaela ; Matsukawa, Shinya...
Nature Genetics. 47 (2015) 8 - p. 962-962 , 2015

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

15

47 patients with FLNA associated periventricular nodular he..:

Lange, Max ; Kasper, Burkhard ; Bohring, Axel...
Orphanet Journal of Rare Diseases. 10 (2015) 1 - p. , 2015

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