Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Borgel D

TUBB1 Mutations Cause Thyroid Dysgenesis Associated With Abnormal Platelet Physiology

Yearbook of Paediatric Endocrinology
2019English

Related publications

Novel Mutations in PXDN Cause Microphthalmia and Anterior Segment Dysgenesis

European Journal of Human Genetics
Genetics
2014English

Mutations in DDR2 Gene Cause SMED With Short Limbs and Abnormal Calcifications

American Journal of Human Genetics
Genetics
2009English

Molecular Defects in Thyroid Dysgenesis

Clinical Genetics
Genetics
2019English

Mutations in Mitochondrial Histidyl tRNA Synthetase HARS2 Cause Ovarian Dysgenesis and Sensorineural Hearing Loss of Perrault Syndrome

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2011English

Combined Alpha-Delta Platelet Storage Pool Deficiency Is Associated With Mutations in GFI1B

Molecular Genetics and Metabolism
GeneticsMolecular BiologyBiochemistryEndocrinologyMetabolismDiabetes
2017English

Platelet Physiology and Pathology

BMJ
1960English

Myo1c Mutations Associated With Hearing Loss Cause Defects in the Interaction With Nucleotide and Actin

Cellular and Molecular Life Sciences
Molecular NeuroscienceMolecular MedicineCell BiologyMolecular BiologyPharmacologyCellular
2010English

Abnormal Termination of Ca2+ Release Is a Common Defect of RyR2 Mutations Associated With Cardiomyopathies

Circulation Research
Cardiovascular MedicinePhysiologyCardiology
2012English

Heterogeneous Pulmonary Phenotypes Associated With Mutations in the Thyroid Transcription Factor Gene NKX2-1

Chest
CardiologyCritical CareCardiovascular MedicineIntensive Care MedicinePulmonaryRespiratory Medicine
2013English

Amanote Research

Note-taking for researchers

Follow Amanote

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

Privacy PolicyRefund Policy