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Publications by Célia Nogueira

Identification of a Novel TTC19 Mutation in a Portuguese Family With Complex III Deficiency

Molecular Medicine

Molecular Biology

English

Iron‐sulfur Cluster ISD11 Deficiency ( LYRM4 Gene) Presenting as Cardiorespiratory Arrest and 3‐methylglutaconic Aciduria

Internal Medicine

Molecular Biology

English

Related publications

Identification of a Novel TCOF1 Mutation in a Chinese Family With Treacher Collins Syndrome

Experimental and Therapeutic Medicine

Cancer Research

English

Identification of a Novel Frameshift Mutation in PITX2 Gene in a Chinese Family With Axenfeld-Rieger Syndrome

Journal of Zhejiang University: Science B

Molecular Biology

English

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family With Episodic Ataxia 2

Multidisciplinary

English

A Novel TRPS1 Mutation in a Moroccan Family With Tricho-Rhino-Phalangeal Syndrome Type III: Case Report

BMC Medical Genetics

English

Identification of a Novel Missense FBN2 Mutation in a Chinese Family With Congenital Contractural Arachnodactyly Using Exome Sequencing

Multidisciplinary

English

Identification and Functional Analysis of a Novel MIP Gene Mutation Associated With Congenital Cataract in a Chinese Family

Multidisciplinary

English

Identification of a Familial Mutation Associated With GABA-Transaminase Deficiency Disease

Neurobiology of Disease

English

A Novel Mutation in a Kazakh Family With X-Linked Alport Syndrome

Multidisciplinary

English

Identification of a Novel Mutation of the PRKAR1A Gene in a Patient With Carney Complex With Significant Osteoporosis and Recurrent Fractures

English