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  2. Details for: Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.
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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. [electronic resource]

By:
  • Kouz, Karim
Contributor(s):
  • Lissewski, Christina
  • Spranger, Stephanie
  • Mitter, Diana
  • Riess, Angelika
  • Lopez-Gonzalez, Vanesa
  • Lüttgen, Sabine
  • Aydin, Hatip
  • von Deimling, Florian
  • Evers, Christina
  • Hahn, Andreas
  • Hempel, Maja
  • Issa, Ulrike
  • Kahlert, Anne-Karin
  • Lieb, Adrian
  • Villavicencio-Lorini, Pablo
  • Ballesta-Martinez, Maria Juliana
  • Nampoothiri, Sheela
  • Ovens-Raeder, Angela
  • Puchmajerová, Alena
  • Satanovskij, Robin
  • Seidel, Heide
  • Unkelbach, Stephan
  • Zabel, Bernhard
  • Kutsche, Kerstin
  • Zenker, Martin
Producer: 20170911Description: 1226-1234 p. digitalISSN:
  • 1530-0366
Subject(s):
  • Cardiomyopathy, Hypertrophic -- genetics
  • Female
  • Genetic Association Studies
  • Genotype
  • Germ-Line Mutation
  • Heart Defects, Congenital -- genetics
  • Humans
  • Male
  • Noonan Syndrome -- genetics
  • Pedigree
  • Phenotype
  • ras Proteins -- genetics
Online resources:
  • Available from publisher's website
In: Genetics in medicine : official journal of the American College of Medical Genetics vol. 18
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Publication Type: Journal Article

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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

APA

Kouz K., Lissewski C., Spranger S., Mitter D., Riess A., Lopez-Gonzalez V., Lüttgen S., Aydin H., von Deimling F., Evers C., Hahn A., Hempel M., Issa U., Kahlert A., Lieb A., Villavicencio-Lorini P., Ballesta-Martinez M. J., Nampoothiri S., Ovens-Raeder A., Puchmajerová A., Satanovskij R., Seidel H., Unkelbach S., Zabel B., Kutsche K. & Zenker M. (20170911). Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. : Genetics in medicine : official journal of the American College of Medical Genetics.

Chicago

Kouz Karim, Lissewski Christina, Spranger Stephanie, Mitter Diana, Riess Angelika, Lopez-Gonzalez Vanesa, Lüttgen Sabine, Aydin Hatip, von Deimling Florian, Evers Christina, Hahn Andreas, Hempel Maja, Issa Ulrike, Kahlert Anne-Karin, Lieb Adrian, Villavicencio-Lorini Pablo, Ballesta-Martinez Maria Juliana, Nampoothiri Sheela, Ovens-Raeder Angela, Puchmajerová Alena, Satanovskij Robin, Seidel Heide, Unkelbach Stephan, Zabel Bernhard, Kutsche Kerstin and Zenker Martin. 20170911. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. : Genetics in medicine : official journal of the American College of Medical Genetics.

Harvard

Kouz K., Lissewski C., Spranger S., Mitter D., Riess A., Lopez-Gonzalez V., Lüttgen S., Aydin H., von Deimling F., Evers C., Hahn A., Hempel M., Issa U., Kahlert A., Lieb A., Villavicencio-Lorini P., Ballesta-Martinez M. J., Nampoothiri S., Ovens-Raeder A., Puchmajerová A., Satanovskij R., Seidel H., Unkelbach S., Zabel B., Kutsche K. and Zenker M. (20170911). Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. : Genetics in medicine : official journal of the American College of Medical Genetics.

MLA

Kouz Karim, Lissewski Christina, Spranger Stephanie, Mitter Diana, Riess Angelika, Lopez-Gonzalez Vanesa, Lüttgen Sabine, Aydin Hatip, von Deimling Florian, Evers Christina, Hahn Andreas, Hempel Maja, Issa Ulrike, Kahlert Anne-Karin, Lieb Adrian, Villavicencio-Lorini Pablo, Ballesta-Martinez Maria Juliana, Nampoothiri Sheela, Ovens-Raeder Angela, Puchmajerová Alena, Satanovskij Robin, Seidel Heide, Unkelbach Stephan, Zabel Bernhard, Kutsche Kerstin and Zenker Martin. Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation. : Genetics in medicine : official journal of the American College of Medical Genetics. 20170911.

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