Yvonne Hendriks

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)

Growth hormone treatment adjusted for growth hormone sensitivity in idiopathic short stature

Anne R Kruijsen, J. M. Wit, Kirsten de Groote, Lauren D Punt et autres

nl, Gabon (code pays fourni par la source)

Clinical Characteristics and Response to Growth Hormone Treatment in 27 Children With Heterozygous NPR2 Variants: Real-World Data

Judith S. Renes, Ardine Reedijk, Anita Hokken-Koelega, Yvonne Hendriks et autres

Gabon, nl, jp (code pays fourni par la source)

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Dmitrijs Rots, Sanaa Choufani, Víctor Faùndes, Alexander J.M. Dingemans et autres

nl, pl, ca, gb, au, us, fr, qa, it, in, ch, cl, es, de (code pays fourni par la source)

Genetic Findings in Short Turkish Children Born to Consanguineous Parents

Sjoerd D. Joustra, Emregül Işık, Jan M. Wit, Gönül Çatlı et autres

nl, tr, es, gb (code pays fourni par la source)

Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway

Julian Delanne, Magaly Lecat, Patrick R. Blackburn, Eric W. Klee et autres

fr, us, nl, dk, ca (code pays fourni par la source)

Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps

Verónica Mericq, Isabel Huang‐Doran, Dhekra Alnaqeb, Javiera Basaure et autres

cl, gb, nl, it, sa (code pays fourni par la source)

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

Daan M. Panneman, Saskia B. Wortmann, Charlotte A. Haaxma, Peter M. van Hasselt et autres

nl, at, de (code pays fourni par la source)

Author response for "Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction"

Daan M. Panneman, Saskia B. Wortmann, Charlotte A. Haaxma, Peter M. van Hasselt et autres

Variable workup calls for guideline development for type 2A hereditary haemochromatosis.

Sophie Smit, Tessa M. A. Peters, Ingrid Gisbertz, Willem Moolenaar et autres

nl (code pays fourni par la source)

Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation

Xiaoyan Ge, Henry Gong, Kevin Dumas, Jessica Litwin et autres

us, nl (code pays fourni par la source)

Poorly Controlled Congenital Hypothyroidism due to an Underlying Allgrove Syndrome

Vera van Tellingen, Martijn J.J. Finken, Joël Israëls, Yvonne Hendriks et autres

nl, us (code pays fourni par la source)