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4 in total

1. Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.

Authors: Anna Papadopoulou; Michalis Issakidis; Evangelia Gole; Konstantina Kosma; Helen Fryssira; Andreas Fretzayas; Polyxeni Nicolaidou; Sophia Kitsiou-Tzeli
Journal: Eur J Pediatr Date: 2011-05-18 Impact factor: 3.183

2. The face of Noonan syndrome: Does phenotype predict genotype.

Authors: Judith E Allanson; Axel Bohring; Helmuth-Guenther Dörr; Andreas Dufke; Gabrielle Gillessen-Kaesbach; Denise Horn; Rainer König; Christian P Kratz; Kerstin Kutsche; Silke Pauli; Salmo Raskin; Anita Rauch; Anne Turner; Dagmar Wieczorek; Martin Zenker
Journal: Am J Med Genet A Date: 2010-08 Impact factor: 2.802

3. Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.

Authors: Tahir Atik; Ayca Aykut; Filiz Hazan; Huseyin Onay; Damla Goksen; Sukran Darcan; Ajlan Tukun; Ferda Ozkinay
Journal: Indian J Pediatr Date: 2016-01-28 Impact factor: 1.967

4. Clinical and molecular spectra of BRAF-associated RASopathy.

Authors: Yena Lee; Yunha Choi; Go Hun Seo; Gu-Hwan Kim; In Hee Choi; Changwon Keum; Jung Min Ko; Chong Kun Cheon; Jihyun Jeon; Jin-Ho Choi; Han-Wook Yoo; Beom Hee Lee
Journal: J Hum Genet Date: 2020-10-10 Impact factor: 3.172

4 in total