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List of works by Yuval Yogev

A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I

scientific article published on 12 April 2019

CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice

scientific article published on 26 October 2021

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe

scientific article published on 04 December 2018

DEGS1 variant causes neurological disorder

scientific article published on 11 June 2019

Hyperuricemia and gout caused by missense mutation in d-lactate dehydrogenase

scientific article published on 01 December 2019

Nocturnal Atrial Fibrillation Caused by Mutation in KCND2, Encoding Pore-Forming (α) Subunit of the Cardiac Kv4.2 Potassium Channel

scientific article published on 01 November 2018

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome

scientific article published on 31 March 2020

Progressive hereditary spastic paraplegia caused by a homozygous KY mutation

scientific article published on 10 May 2017

SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome

scientific article published on 05 February 2019

SEC31A mutation affects ER homeostasis, causing a neurological syndrome

scientific article published on 21 November 2018

Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy

scientific article published in 2022

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