An extra small metacentric autosome in a mentally retarded boy with multiple malformations

Definition of severity, management, and follow-up of isolated snoring in adults: An international consensus.

European annals of otorhinolaryngology, head and neck diseases·2026

Prospective multicentre study on barbed reposition pharyngoplasty standing alone or as a part of multilevel surgery for sleep apnoea.

Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery·2017

Barbed anterior pharyngoplasty: an evolution of anterior palatoplasty.

Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale·2015

Identification of obstructive sites and patterns in obstructive sleep apnoea syndrome by sleep endoscopy in 614 patients.

Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale·2013

Videoendoscopic adenoidectomy with microdebrider.

Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale·2008

In vitro leukemic cell differentiation and WT1 gene expression.

Leukemia research·2006

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

Journal of medical genetics·2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal of medical genetics·2026

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Journal of medical genetics·2026

Whole-transcriptome profiling of the fat body identifies aae-miR-283-ApoLp-Ⅱ/Ⅰ regulation associated with lipid transport and ovarian development in Aedes aegypti.

Insect biochemistry and molecular biology·2026

Androgen signaling via sympathetic neurons regulates allergic pulmonary inflammation.

Science immunology·2026

VDR BsmI polymorphism and obesity in vitamin D deficiency among undergraduate students: a cross-sectional study.

Molecular biology reports·2026

Investigation of WNT2, DISC1, and DOCK4 polymorphisms in a Turkish autism spectrum disorder cohort: a case-control and bioinformatics analysis.

Molecular biology reports·2026

Non-syndromic adult-onset rod-cone dystrophy.

Retina (Philadelphia, Pa.)·2026

Exploring the Landscape of Circular RNAs in Testes of Dezhou Donkey During Distinct Developmental Stages.

Reproduction in domestic animals = Zuchthygiene·2026

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An extra small metacentric autosome in a mentally retarded boy with multiple malformations

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Definition of severity, management, and follow-up of isolated snoring in adults: An international consensus.

Prospective multicentre study on barbed reposition pharyngoplasty standing alone or as a part of multilevel surgery for sleep apnoea.

Barbed anterior pharyngoplasty: an evolution of anterior palatoplasty.

Identification of obstructive sites and patterns in obstructive sleep apnoea syndrome by sleep endoscopy in 614 patients.

Videoendoscopic adenoidectomy with microdebrider.

In vitro leukemic cell differentiation and WT1 gene expression.

Childhood-onset neurodegeneration and brain atrophy: defining UBTF-related developmental regression and progressive ataxia.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Evolving roles within the genomic medicine workforce: a revised framework for UK practice-position on behalf of the Association of Genetic Nurses and Counsellors and the Clinical Genetics Society.

Actionable genotypes beyond the coding sequence and their association with lifespan in the UK Biobank.

Pan-ethnic preconception screening: evidence from a large-scale programme in a genetically diverse population.

CACNA1C variants associated with focal epilepsy and their correlations with arrhythmias and developmental disorders.

Whole-transcriptome profiling of the fat body identifies aae-miR-283-ApoLp-Ⅱ/Ⅰ regulation associated with lipid transport and ovarian development in Aedes aegypti.

Androgen signaling via sympathetic neurons regulates allergic pulmonary inflammation.

VDR BsmI polymorphism and obesity in vitamin D deficiency among undergraduate students: a cross-sectional study.

Investigation of WNT2, DISC1, and DOCK4 polymorphisms in a Turkish autism spectrum disorder cohort: a case-control and bioinformatics analysis.

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An extra small metacentric autosome in a mentally retarded boy with multiple malformations

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