Frank Sleutels

Publisher Correction: Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

Daniel Greene, Rodrigo Mendez, Jon Lees, Mafalda Barbosa et autres

gb, us, it, nl, be (code pays fourni par la source)

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

Daniel Greene, Rodrigo Mendez, Jon Lees, Mafalda Barbosa et autres

gb, us, it, nl, be (code pays fourni par la source)

Biallelic ACER3 Variants Cause Infantile- and Early-Childhood-Onset Neurodegeneration with Leukodystrophy

Rauan B. Kaiyrzhanov, Ruijuan Xu, Mina Zamani, Robert D. Healey et autres

kz, us, gb, fr, Égypte, es, ca, in, ch, ir, tr, de, cl, no, mx, pl, nl, sa, Tunisie (code pays fourni par la source)

Palindrome-mediated 16p13.3 triplications cause a recognizable neurodegenerative disorder with ataxia

James Fasham, Julia Rankin, Rachel Schot, Katrina M. Bell et autres

gb, nl, au (code pays fourni par la source)

Nanopore long-read sequencing for the critically ill facilitates ultrarapid diagnostics and urgent clinical decision making

Daphne J. Smits, Federico Ferraro, Mark Drost, Herma C. van der Linde et autres

nl (code pays fourni par la source)

Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools

Mark Drost, Jordy Dekker, Federico Ferraro, Esmee Kasteleijn et autres

nl (code pays fourni par la source)

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

Daniel Greene, Rodrigo Mendez, Jon Lees, Mafalda Barbosa et autres

gb, us, it, nl, be (code pays fourni par la source)

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders

Daphne J. Smits, Christophe Debuy, Alice S. Brooks, Rachel Schot et autres

nl, lv (code pays fourni par la source)

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Daniel Greene, Koenraad De Wispelaere, Jonathan Lees, Marta Codina‐Solà et autres

gb, us, be, es, is, nl (code pays fourni par la source)

BRCC3 ‐Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing

Fatimah Albuainain, Rachel Schot, Bob Roozenbeek, Frank Sleutels et autres

nl (code pays fourni par la source)

Author response for " BRCC3 ‐Associated Syndromic Moyamoya Angiopathy Diagnosed Through Clinical RNA Sequencing"

Fatimah Albuainain, Rachel Schot, Bob Roozenbeek, Frank Sleutels et autres

The High Diagnostic Yield of Prenatal Exome Sequencing Followed by 3400 Gene Panel Analysis in 629 Ongoing Pregnancies With Ultrasound Anomalies

Karin E. M. Diderich, Hennie T. Brüggenwirth, Marieke Joosten, Florentine F. Thurik et autres

nl (code pays fourni par la source)