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Kohlschmidt, N.
17  results:
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1

P.83 Molecular pathology of human PPP1R21 deficiency:

Meyer, N. ; Kohlschmidt, N. ; Lochmüller, H....
Neuromuscular Disorders.  32 (2022)  - p. S76 , 2022
Link: https://doi.org/10.1016/..
 
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2

P.28 Introduction of 12 novel pathogenic DMD variants, asso..:

Gangfuss, A. ; Neuhoff, K. ; Hentschel, A....
Neuromuscular Disorders.  32 (2022)  - p. S53 , 2022
Link: https://doi.org/10.1016/..
 
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3

P.186Two patients with PURA syndrome in a large cohort of p..:

Mroczek, M. ; Töpf, A. ; Zafeiriou, D....
Neuromuscular Disorders.  29 (2019)  - p. S103 , 2019
Link: https://doi.org/10.1016/..
 
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4

Insights into the genesis of a brain and muscle disorder ca..:

Roos, A. ; Topf, A. ; Phan, V....
Neuromuscular Disorders.  27 (2017)  - p. S117 , 2017
Link: https://doi.org/10.1016/..
 
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5

Cancer spectrum and frequency among children with Noonan, C..:

Kratz, C P ; Franke, L ; Peters, H...
British Journal of Cancer.  112 (2015)  8 - p. 1392-1397 , 2015
Link: https://doi.org/10.1038/..
 
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6

Homozygote und "compound"-heterozygote RYR1-Mutationen: Neu..:

Wolak, S. ; Rücker, B. ; Kohlschmidt, N....
Der Anaesthesist.  63 (2014)  8-9 - p. 643-650 , 2014
Link: https://doi.org/10.1007/..
 
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7

G.P.59:

Reimann, J. ; Kohlschmidt, N. ; Kappes-Horn, K....
Neuromuscular Disorders.  24 (2014)  9-10 - p. 812 , 2014
Link: https://doi.org/10.1016/..
 
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8

Autoimmunpolyendokrinopathiesyndrom Typ 1: Ein Fallbericht:

El Arbi, S. ; Kohlschmidt, N. ; Demant, -.
Monatsschrift Kinderheilkunde.  161 (2013)  4 - p. 340-344 , 2013
Link: https://doi.org/10.1007/..
 
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9

Epimutation at human chromosome 14q32.2 in a boy with a upd..:

Zechner, U ; Kohlschmidt, N ; Rittner, G...
Clinical Genetics.  75 (2009)  3 - p. 251-258 , 2009
Link: https://doi.org/10.1111/..
 
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10

Deficient membrane integration of the novel p.N14D-GJB2muta..:

Haack, B. ; Schmalisch, K. ; Palmada, M....
Human Mutation.  27 (2006)  11 - p. 1158-1159 , 2006
Link: https://doi.org/10.1002/..
 
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11

Syndrome of autosomal recessive polycystic kidneys with ske..:

Hallermann, C. ; M�cher, G. ; Kohlschmidt, N....
American Journal of Medical Genetics.  90 (2000)  2 - p. 115-119 , 2000
Link: https://doi.org/10.1002/..
 
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12

Cancer spectrum and frequency among children with Noonan, C..:

Kratz, C P ; Franke, L ; Peters, H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402457/.  , 2015
Link: http://www.ncbi.nlm.nih...
 
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13

Long-term prognostic significance of HER-2/neu in untreated..:

Schmidt, M ; Lewark, B ; Kohlschmidt, N...
info:eu-repo/semantics/altIdentifier/doi/10.1186/bcr991.  , 2005
Link: https://serval.unil.ch/n..
 
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14

Clinical and molecular relevance of genetic variants in the..:

Papaioannou, Dimitrios ; Ozer, Hatice G. ; Nicolet, Deedra...
Haematologica.  107 (2021)  5 - p. 1034-1044 , 2021
Link: https://doi.org/10.3324/..
 
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15

SPARC promotes leukemic cell growth and predicts acute myel..:

Alachkar, Houda ; Santhanam, Ramasamy ; Maharry, Kati...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3973087.  , 2014
Link: http://www.ncbi.nlm.nih...
 
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