Interstitial deletion of 2(q33q36) in a child with congenital abnormalities

An ion trap time-of-flight mass spectrometer with high mass resolution for cold trapped ion experiments.

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Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

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Depletion of CHK1, but not CHK2, induces chromosomal instability and breaks at common fragile sites.

Oncogene·2006

Genomic amplification of MET with boundaries within fragile site FRA7G and upregulation of MET pathways in esophageal adenocarcinoma.

Oncogene·2005

Common fragile sites.

Cytogenetic and genome research·2003

Immunological effects of allopurinol in the treatment of experimental autoimmune uveitis (EAU) after onset of the disease.

European journal of ophthalmology·2003

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Journal of medical genetics·2026

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Journal of medical genetics·2026

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Journal of medical genetics·2026

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

Journal of medical genetics·2026

Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature.

Journal of medical genetics·2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

Journal of medical genetics·2026

Dynamic disorder, trap renormalization, and diffusion on rugged energy landscapes.

The Journal of chemical physics·2026

Phase transition and pore criticality in a natural nanoporous medium: adsorption-desorption and calorimetry experimentation and equation-of-state representation.

Physical chemistry chemical physics : PCCP·2026

From One-to-One Complexation to Multisite Binding: Analytical Transport Coefficients and Mechanistic Diagnostics in Chiral Capillary Electrophoresis.

Electrophoresis·2026

Pillar pain as a previously undescribed predictor of clinical outcome after carpal tunnel syndrome surgery: A prospective cohort study.

Revista espanola de cirugia ortopedica y traumatologia·2026

Mechanistic insights into electrosorption of diverse organic compounds: Is the molecular structure a barrier?

Journal of hazardous materials·2026

Polarizability in graphene increases nanoscale friction by amplifying interfacial energy corrugation.

The Journal of chemical physics·2026

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Interstitial deletion of 2(q33q36) in a child with congenital abnormalities

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An ion trap time-of-flight mass spectrometer with high mass resolution for cold trapped ion experiments.

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

Depletion of CHK1, but not CHK2, induces chromosomal instability and breaks at common fragile sites.

Genomic amplification of MET with boundaries within fragile site FRA7G and upregulation of MET pathways in esophageal adenocarcinoma.

Common fragile sites.

Immunological effects of allopurinol in the treatment of experimental autoimmune uveitis (EAU) after onset of the disease.

Evaluating consistency and variation in mainstream germline cancer genetic and genomic testing.

Prophylactic total gastrectomy in germline CDH1 carriers: results across 25 years from a systematic review and meta-analysis.

Safety and efficacy of AAV-based mini- and micro-dystrophin gene therapies in Duchenne muscular dystrophy: a systematic review and meta-analysis of clinical trials.

Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study.

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Dynamic disorder, trap renormalization, and diffusion on rugged energy landscapes.

Phase transition and pore criticality in a natural nanoporous medium: adsorption-desorption and calorimetry experimentation and equation-of-state representation.

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Interstitial deletion of 2(q33q36) in a child with congenital abnormalities

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