[Amplification of trinucleotide repeats--a new mutation mechanism causing common genetic diseases]

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

Clinical genetics·2017

Cut-off value of nuchal translucency as indication for chromosomal microarray analysis.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2017

Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.

Clinical genetics·2016

Brentuximab vedotin in combination with or without donor lymphocyte infusion for patients with Hodgkin lymphoma after allogeneic stem cell transplantation.

Bone marrow transplantation·2016

Fludarabine and treosulfan compared with other reduced-intensity conditioning regimens for allogeneic stem cell transplantation in patients with lymphoid malignancies.

Bone marrow transplantation·2015

Mobilized peripheral blood grafts include more than hematopoietic stem cells: the immunological perspective.

Bone marrow transplantation·2015

[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

The emergence of putative epistatic mutations and iSNVs in SARS-CoV-2 XBB.1.16 variants linked with alteration in immunogenic determinants.

Frontiers in immunology·2026

Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency.

Journal of human immunity·2026

Nanopore sequencing enhances the detection of low-frequency variants and mutational linkage in HIV-1 drug resistance.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases·2026

Transposon Sequencing in Leptospira interrogans.

Methods in molecular biology (Clifton, N.J.)·2026

Genetic Tools and Approaches to Study Bacterial Efflux Pumps.

Methods in molecular biology (Clifton, N.J.)·2026

Visual Detection and Stratification of Pathogenic mtDNA SNV Heteroplasmy by Balancing FnCas12a Signal Output and Allelic Discrimination.

Analytical chemistry·2026

Related Experiment Videos

[Amplification of trinucleotide repeats--a new mutation mechanism causing common genetic diseases]

Related Concept Videos

Mutations in ERGIC1 cause Arthrogryposis multiplex congenita, neuropathic type.

Cut-off value of nuchal translucency as indication for chromosomal microarray analysis.

Homozygous deletion of RAG1, RAG2 and 5' region TRAF6 causes severe immune suppression and atypical osteopetrosis.

Brentuximab vedotin in combination with or without donor lymphocyte infusion for patients with Hodgkin lymphoma after allogeneic stem cell transplantation.

Fludarabine and treosulfan compared with other reduced-intensity conditioning regimens for allogeneic stem cell transplantation in patients with lymphoid malignancies.

Mobilized peripheral blood grafts include more than hematopoietic stem cells: the immunological perspective.

[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].

The emergence of putative epistatic mutations and iSNVs in SARS-CoV-2 XBB.1.16 variants linked with alteration in immunogenic determinants.

Base editing reversal of radiation sensitivity in NHEJ1 immunodeficiency.

Nanopore sequencing enhances the detection of low-frequency variants and mutational linkage in HIV-1 drug resistance.

Transposon Sequencing in Leptospira interrogans.

Genetic Tools and Approaches to Study Bacterial Efflux Pumps.

Visual Detection and Stratification of Pathogenic mtDNA SNV Heteroplasmy by Balancing FnCas12a Signal Output and Allelic Discrimination.

Related Experiment Videos

[Amplification of trinucleotide repeats--a new mutation mechanism causing common genetic diseases]

Related Concept Videos

Related Articles