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Graul‐Neumann, L
86
results:
Search for persons
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Online (86)
Mediatypes
Articles (Online) (47)
OpenAccess-fulltext (39)
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english (81)
german (3)
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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
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/..
?
15
Transcriptional regulator PRDM12 is essential for human pai..:
Chen, Ya-Chun
;
Auer-Grumbach, Michaela
;
Matsukawa, Shinya
...
Nature Genetics. 47 (2015) 7 - p. 803-808 , 2015
Link:
https://doi.org/10.1038/..
1-15