[Application of recombinant DNA technology to detection of inherited defects]

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

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.

Clinical genetics·2011

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.

Clinical genetics·2008

Human T-cell lymphotropic virus type 1 provirus and phylogenetic analysis in patients with mycosis fungoides and their family relatives.

The British journal of dermatology·2006

[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

Gate-Tunable Polarity-Reconfigurable Photovoltaic Response With Dual Linearity in NbS3/WSe2 Heterostructures for In-Sensor Image Processing.

Advanced science (Weinheim, Baden-Wurttemberg, Germany)·2026

Wearable saving lives: a case report.

Resuscitation plus·2026

Protocol for Duplex Sequencing of Mitochondrial DNA in Single Human Oocytes.

Journal of visualized experiments : JoVE·2026

Full Band Spectral Regulation Electrochromic Electrode for Multi-Mode Smart Window.

Nano letters·2026

Ce/Zr-MOF- and TCEP-Mediated Ascorbic Acid Generation for In Situ Oxygen Vacancy Regulation in Bi4O5I2/Bi2S3 Gate: A Triple-Mode Biosensor for ALKBH5 Detection.

Analytical chemistry·2026

Integrated optical isolators for broadband multi-laser operation.

Nature photonics·2026

Related Experiment Videos

[Application of recombinant DNA technology to detection of inherited defects]

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.

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel.

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype.

Human T-cell lymphotropic virus type 1 provirus and phylogenetic analysis in patients with mycosis fungoides and their family relatives.

[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].

Gate-Tunable Polarity-Reconfigurable Photovoltaic Response With Dual Linearity in NbS3/WSe2 Heterostructures for In-Sensor Image Processing.

Wearable saving lives: a case report.

Protocol for Duplex Sequencing of Mitochondrial DNA in Single Human Oocytes.

Full Band Spectral Regulation Electrochromic Electrode for Multi-Mode Smart Window.

Ce/Zr-MOF- and TCEP-Mediated Ascorbic Acid Generation for In Situ Oxygen Vacancy Regulation in Bi4O5I2/Bi2S3 Gate: A Triple-Mode Biosensor for ALKBH5 Detection.

Integrated optical isolators for broadband multi-laser operation.

Related Experiment Videos

[Application of recombinant DNA technology to detection of inherited defects]

Related Concept Videos

Related Articles