Gillespiе Syndrome, Caused by Previously Undescribed Mutation in the Gene ITPR1

Russkii Zhunal Detskoi Nevrologii - Russian Federation
doi 10.17650/2073-8803-2019-14-1-49-53
Full Text
Abstract

Available in full text

Date
Authors
Publisher

Publishing House ABV Press

Related search

Treating TRAPS Syndrome With a Previously Undescribed TNF Α Gene Receptor Mutation Successfully With Canakinumab

Pediatric pharmacology
2016English

EP04.36: Fetal Sinus Bradycardia as the Symptom of Previously Undiagnosed Familial Form of Long QT Syndrome Type 1 Caused by Mutation of KCNQ1 Gene (C.926C>T)

Ultrasound in Obstetrics and Gynecology
Nuclear MedicineRadiologyUltrasound TechnologyGynecologyReproductive MedicineRadiologicalImagingObstetricsMedicine
2017English

Keratoendotheliitis Fugax Hereditaria Is Caused by a Mutation in the NLRP3 Gene

Acta Ophthalmologica
MedicineOphthalmology
2018English

A Previously Undescribed Presentation of Mixed Adenoneuroendocrine Carcinoma

Case Reports in Pathology
2016English

Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings

Movement Disorders Clinical Practice
Neurology
2019English

Transcriptome Changes in Fusarium Verticillioides Caused by Mutation in the Transporter-Like Gene FST1

BMC Microbiology
Microbiology
2015English

Neurofilament Deficiency in Quail Caused by Nonsense Mutation in Neurofilament-L Gene

Journal of Cell Biology
MedicineCell Biology
1993English

Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen

American Journal of Human Genetics
Genetics
2000English

Familial Scaphocephaly Syndrome Caused by a Novel Mutation in the FGFR2 Tyrosine Kinase Domain

Journal of Medical Genetics
Genetics
2005English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy