[Identification of the cystic fibrosis gene]

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

Clinical genetics·2015

Analysis of gene expression array in TSC2-deficient AML cells reveals IRF7 as a pivotal factor in the Rheb/mTOR pathway.

Cell death & disease·2014

Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency.

Clinical and experimental immunology·2014

Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment.

Clinical and experimental immunology·2012

Modeling invasive breast cancer: growth factors propel progression of HER2-positive premalignant lesions.

Oncogene·2011

Modeling ductal carcinoma in situ: a HER2-Notch3 collaboration enables luminal filling.

Oncogene·2011

[The Relationship between Physical Activity, Growth, Diagnosis, and Treatment in Children with Attention-Deficit/Hyperactivity Disorder].

Harefuah·2026

[Acute Q Fever in Patients with Risk Factors for a Focalized Persistent Infection - Can Prolonged Antimicrobial Therapy Prevent this Complication?]

Harefuah·2026

[TAVI Program in Centers without an On-Site Cardiac Surgical Department: Outcomes and Feasibility].

Harefuah·2026

[Methadone vs Fentanyl Patch for Prevention of Agitation in Intensive Care Patients: A Before-After Intervention Study].

Harefuah·2026

[Drug Allergies in Elderly Patients: The Outcomes of Allergic Evaluation and Long-Term Follow-up].

Harefuah·2026

[Medical Management Alone in Symptomatic Free-Floating Thrombus of the Carotid Artery].

Harefuah·2026

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences·2026

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Biology of sex differences·2026

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Ophthalmology science·2026

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Journal of assisted reproduction and genetics·2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

American journal of human genetics·2026

Related Experiment Videos

[Identification of the cystic fibrosis gene]

Related Concept Videos

SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.

Analysis of gene expression array in TSC2-deficient AML cells reveals IRF7 as a pivotal factor in the Rheb/mTOR pathway.

Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency.

Selective clinical and immune response of the oligoclonal autoreactive T cells in Omenn patients after cyclosporin A treatment.

Modeling invasive breast cancer: growth factors propel progression of HER2-positive premalignant lesions.

Modeling ductal carcinoma in situ: a HER2-Notch3 collaboration enables luminal filling.

[The Relationship between Physical Activity, Growth, Diagnosis, and Treatment in Children with Attention-Deficit/Hyperactivity Disorder].

[Acute Q Fever in Patients with Risk Factors for a Focalized Persistent Infection - Can Prolonged Antimicrobial Therapy Prevent this Complication?]

[TAVI Program in Centers without an On-Site Cardiac Surgical Department: Outcomes and Feasibility].

[Methadone vs Fentanyl Patch for Prevention of Agitation in Intensive Care Patients: A Before-After Intervention Study].

[Drug Allergies in Elderly Patients: The Outcomes of Allergic Evaluation and Long-Term Follow-up].

[Medical Management Alone in Symptomatic Free-Floating Thrombus of the Carotid Artery].

Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling.

[Genetic and functional characterization of a novel KIT splicing variant in a Chinese three-generation pedigree with piebaldism].

Genome-wide association study of sarcopenia index reveals sex-stratified genetic architecture.

Whole-Exome Sequencing in a Consanguinity-Enriched South Indian Retinitis Pigmentosa Cohort: Diagnostic Yield and Molecular Spectrum.

Genetic analysis, reproductive decision-making, and pregnancy outcomes in 51 Chinese osteogenesis imperfecta families.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Related Experiment Videos

[Identification of the cystic fibrosis gene]

Related Concept Videos

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