De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy

Mutational spectrum of classical galactosaemia in Spain and Portugal.

Journal of inherited metabolic disease·2006

A new human genetic resource: a DNA bank established as part of the Avon longitudinal study of pregnancy and childhood (ALSPAC).

European journal of human genetics : EJHG·2000

The relationship of genotype to cognitive outcome in galactosaemia.

Archives of disease in childhood·2000

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

Human mutation·1999

Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.

Human mutation·1997

Experimental design: a useful tool for PCR Optimization.

BioTechniques·1996

Mosaic KRAS Variant as a Cause of Developmental Eye Anomalies in an Individual With EncephaloCranioCutaneous Lipomatosis.

Clinical genetics·2026

Expanding the Biochemical Phenotype of ReNU Syndrome: A Case Report.

Clinical genetics·2026

Novel LOX Start-Loss Variant Mimicking Arterial Tortuosity Syndrome in Neonatal Cutis Laxa: A Diagnostic Challenge.

Clinical genetics·2026

Fatal Neonatal mTORopathy: Expanding the Phenotypic Spectrum of RRAGC-Associated Long-Olsen-Distelmaier Syndrome.

Clinical genetics·2026

Challenges in Gene-Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar.

Clinical genetics·2026

Silent Ears, Failing Heart: Dilated Cardiomyopathy in an Infant With LARS2-Related Perrault Syndrome Type 4 (PRLTS4).

Clinical genetics·2026

Patellofemoral malalignment and lateral patellar cartilage degeneration in adults with an Osgood-Schlatter-compatible MRI phenotype.

Acta radiologica (Stockholm, Sweden : 1987)·2026

"Pave and Cover" strategy for Rotarex-assisted endovascular repair of thrombosed popliteal artery aneurysm to mitigate distal embolization.

Journal of vascular surgery cases and innovative techniques·2026

Bone-preserving ankle arthrodesis after infected pilon fracture nonunion: lessons from tapered distal docking and fibular-supported reconstruction.

Journal of medical case reports·2026

CT-based simulation of impingement-free mechanical hip motion after unilateral total hip arthroplasty.

BMC musculoskeletal disorders·2026

Implant Choice Impacts Initial Tibial Component Micromotion in Total Ankle Replacement: A Biomechanical Analysis.

The Journal of bone and joint surgery. American volume·2026

Cable-routing geometry as a design variable for multiplanar hip assistance in a single-actuator soft exosuit.

PloS one·2026

De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy

Related Experiment Videos

Related Concept Videos

Mutational spectrum of classical galactosaemia in Spain and Portugal.

A new human genetic resource: a DNA bank established as part of the Avon longitudinal study of pregnancy and childhood (ALSPAC).

The relationship of genotype to cognitive outcome in galactosaemia.

Classical galactosemia and mutations at the galactose-1-phosphate uridyl transferase (GALT) gene.

Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.

Experimental design: a useful tool for PCR Optimization.

Mosaic KRAS Variant as a Cause of Developmental Eye Anomalies in an Individual With EncephaloCranioCutaneous Lipomatosis.

Expanding the Biochemical Phenotype of ReNU Syndrome: A Case Report.

Novel LOX Start-Loss Variant Mimicking Arterial Tortuosity Syndrome in Neonatal Cutis Laxa: A Diagnostic Challenge.

Fatal Neonatal mTORopathy: Expanding the Phenotypic Spectrum of RRAGC-Associated Long-Olsen-Distelmaier Syndrome.

Challenges in Gene-Directed Therapies for Rare Neurodevelopmental Disorders Using HNRNPU as an Exemplar.

Silent Ears, Failing Heart: Dilated Cardiomyopathy in an Infant With LARS2-Related Perrault Syndrome Type 4 (PRLTS4).

Patellofemoral malalignment and lateral patellar cartilage degeneration in adults with an Osgood-Schlatter-compatible MRI phenotype.

"Pave and Cover" strategy for Rotarex-assisted endovascular repair of thrombosed popliteal artery aneurysm to mitigate distal embolization.

Bone-preserving ankle arthrodesis after infected pilon fracture nonunion: lessons from tapered distal docking and fibular-supported reconstruction.

CT-based simulation of impingement-free mechanical hip motion after unilateral total hip arthroplasty.

Implant Choice Impacts Initial Tibial Component Micromotion in Total Ankle Replacement: A Biomechanical Analysis.

Cable-routing geometry as a design variable for multiplanar hip assistance in a single-actuator soft exosuit.

De novo DNA rearrangement in atypical facioscapulohumeral muscular dystrophy

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