Williams syndrome and chromosome 18

Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.

SpringerPlus·2016

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.

Familial cancer·2016

Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline SDHB exon 3 deletion.

Clinical genetics·2015

Bilateral renal tumour as indicator for birt-hogg-dubé syndrome.

Case reports in medicine·2014

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).

Journal of medical genetics·2014

Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.

British journal of cancer·2011

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Journal of medical genetics·2026

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

Journal of medical genetics·2026

Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.

Journal of medical genetics·2026

Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers.

Journal of medical genetics·2026

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Journal of medical genetics·2026

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

Journal of medical genetics·2026

Comparison of three commercial multi-energy CT and electron density phantoms for iodine quantification and tissue substitute characterization.

Journal of applied clinical medical physics·2026

Inner Helmholtz Plane Reconstruction Enables High‑Voltage Sodium‑Ion Batteries.

Angewandte Chemie (International ed. in English)·2026

High-performance inkjet-printed organic electrochemical transistors for rapid NT-proBNP detection and biopotential amplification.

Lab on a chip·2026

The role of an ultrasound-responsive injectable piezoelectric hydrogel in promoting nerve regeneration and alleviating neuropathic pain.

Theranostics·2026

Evaluation of the effects of a high-efficiency decontamination solution for sodium contamination on sodium burn wounds in rat skin.

Frontiers in bioengineering and biotechnology·2026

Molecular Backbone Regulation for Enhanced Ion Retention in Nonvolatile Organic Electrochemical Synaptic Transistors.

Small (Weinheim an der Bergstrasse, Germany)·2026

Related Experiment Videos

Williams syndrome and chromosome 18

Related Concept Videos

Risk of spontaneous pneumothorax due to air travel and diving in patients with Birt-Hogg-Dubé syndrome.

Colorectal cancer risk variants at 8q23.3 and 11q23.1 are associated with disease phenotype in APC mutation carriers.

Low penetrance of paraganglioma and pheochromocytoma in an extended kindred with a germline SDHB exon 3 deletion.

Bilateral renal tumour as indicator for birt-hogg-dubé syndrome.

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium "Care for CMMR-D" (C4CMMR-D).

Renal cancer and pneumothorax risk in Birt-Hogg-Dubé syndrome; an analysis of 115 FLCN mutation carriers from 35 BHD families.

Single-cell transcriptomics identifies neural fate disruption and glial reprogramming caused by RARS2 deficiency.

Unified genetic risk score for prostate cancer enables improved risk stratification for clinical decision-making.

Integrated D4Z4 structural, epigenetic and exome-based evaluation of facioscapulohumeral muscular dystrophy in a tertiary referral cohort from Türkiye.

Potential advantage of clinical exome sequencing in BRCA1/2-negative families: a retrospective study of a cohort of 500 patients at a high-risk for hereditary cancers.

Cancer Variant Interpretation Group UK (CanVIG-UK): updates on an exemplar national subspecialty multidisciplinary network.

Frequent FBN2 variants in pectus excavatum highlight underlying phenotypic variability.

Comparison of three commercial multi-energy CT and electron density phantoms for iodine quantification and tissue substitute characterization.

Inner Helmholtz Plane Reconstruction Enables High‑Voltage Sodium‑Ion Batteries.

High-performance inkjet-printed organic electrochemical transistors for rapid NT-proBNP detection and biopotential amplification.

The role of an ultrasound-responsive injectable piezoelectric hydrogel in promoting nerve regeneration and alleviating neuropathic pain.

Evaluation of the effects of a high-efficiency decontamination solution for sodium contamination on sodium burn wounds in rat skin.

Molecular Backbone Regulation for Enhanced Ion Retention in Nonvolatile Organic Electrochemical Synaptic Transistors.

Related Experiment Videos

Williams syndrome and chromosome 18

Related Concept Videos

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