Ngā hua rapu - Vanessa A. van Rahden
- E whakaatu ana i te 1 - 4 hua o te 4
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Mutations in NDUFB11, Encoding a Complex I Component of the Mitochondrial Respiratory Chain, Cause Microphthalmia with Linear Skin Defects Syndrome mā Vanessa A. van Rahden, Erika Fernández‐Vizarra, Malik Alawi, K. Gerhard Brand, Florence Fellmann, Denise Horn, Massimo Zeviani, Kerstin Kutsche
I whakaputaina 2015Artigo -
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Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease mā Alessia Indrieri, Vanessa A. van Rahden, Valeria Tiranti, Manuela Morleo, Daniela Iaconis, Roberta Tammaro, Ilaria D’Amato, Iván Conte, Isabelle Maystadt, Stephanie Demuth, Alex Zvulunov, Kerstin Kutsche, Massimo Zeviani, Brunella Franco
I whakaputaina 2012Artigo -
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Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome mā Vanessa A. van Rahden, Isabella Rau, Sigrid Fuchs, Friederike Katharina Kosyna, Hiram Larangeira de Almeida, Helen Fryssira, Bertrand Isidor, Anna Jauch, Madeleine Joubert, Augusta M.A. Lachmeijer, Christiane Zweier, Ute Moog, Kerstin Kutsche
I whakaputaina 2014Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Genetics
Gene
Microphthalmia
HCCS
Medicine
Mitochondrial respiratory chain
Mitochondrion
Respiratory chain
Anatomy
Anophthalmia
Bacteria
Biochemistry
Cell biology
Component (thermodynamics)
Dermatology
Effector
Endosome
GTPase
Intracellular
Legionella pneumophila
Missense mutation
Mitochondrial DNA
Mitochondrial disease
Mutation
Nonsense mutation
Pathology
Phenotype
Physics
Rab