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Lista de obras de Daniel Halperin

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

artículo científico publicado en 2021

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

artículo científico publicado en 2018

Efficacy and safety of sequential versus quadruple therapy as second-line treatment for helicobacter pylori infection-A randomized controlled trial

artículo científico publicado en 2017

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

scientific article published on 01 December 2019

Malignant Peritoneal Mesothelioma in an Infant With Familial ATM Mutations

scientific article published on 01 November 2018

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

Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report

scientific article published on 03 June 2020

Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease

artículo científico publicado en 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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

SEC31A mutation affects ER homeostasis, causing a neurological syndrome

scientific article published on 21 November 2018

SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

artículo científico publicado en 2017

The effect of Ramadan fast on the incidence of renal colic emergency department visits.

artículo científico publicado en 2017

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