Novel missense and frameshift mutations in the adrenoleukodystrophy gene

Comparison of a vitamin E-infused highly crosslinked polyethylene insert and a conventional polyethylene insert for primary total knee arthroplasty at two years postoperatively.

The bone & joint journal·2019

Difference in efficacy of proton pump inhibitor between new-onset and recurrent gastroesophageal reflux disease: Result from a study of on-demand versus continuous maintenance therapy in Japan.

Hippokratia·2015

Evaluation of nanodispersion of iron oxides using various polymers.

Indian journal of pharmaceutical sciences·2014

Spin-filter tunnel junction with matched fermi surfaces.

Physical review letters·2012

Successful treatment for Cronkhite-Canada syndrome with endoscopic mucosal resection and salazosulfapyridine.

Techniques in coloproctology·2012

Endoscopic full-thickness resection of a lateral spreading rectal tumor after unplanned injection of dilute hyaluronic acid into the subserosal layer (with video).

Techniques in coloproctology·2012

Megalocornea-mental retardation syndrome: an additional case report.

The Japanese journal of human genetics·2002

The Cohen syndrome: report of a case.

The Japanese journal of human genetics·2002

An azoospermic male with an unbalanced autosomal-Y translocation.

The Japanese journal of human genetics·2002

A nager acrofacial dysostosis syndrome patient with severe respiratory distress syndrome (RDS).

The Japanese journal of human genetics·2002

Mevalonic acidemia: first case of Japan.

The Japanese journal of human genetics·2002

Germline mutations of the APC gene in two Japanese adenomatous polyposis patients.

The Japanese journal of human genetics·2002

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Pediatrics international : official journal of the Japan Pediatric Society·2026

Proteome-wide QTL mapping enables gene-protein-phenotype metabolic network construction in a genetically diverse MASLD mouse model.

bioRxiv : the preprint server for biology·2026

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a.

bioRxiv : the preprint server for biology·2026

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

Genomics, proteomics & bioinformatics·2026

Genome-wide linkage and association mapping identified a novel candidate gene, TaGLK-A1, underlying fructan content in wheat grain.

TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik·2026

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.

Nature communications·2026

Related Experiment Videos

Novel missense and frameshift mutations in the adrenoleukodystrophy gene

Related Concept Videos

Comparison of a vitamin E-infused highly crosslinked polyethylene insert and a conventional polyethylene insert for primary total knee arthroplasty at two years postoperatively.

Difference in efficacy of proton pump inhibitor between new-onset and recurrent gastroesophageal reflux disease: Result from a study of on-demand versus continuous maintenance therapy in Japan.

Evaluation of nanodispersion of iron oxides using various polymers.

Spin-filter tunnel junction with matched fermi surfaces.

Successful treatment for Cronkhite-Canada syndrome with endoscopic mucosal resection and salazosulfapyridine.

Endoscopic full-thickness resection of a lateral spreading rectal tumor after unplanned injection of dilute hyaluronic acid into the subserosal layer (with video).

Megalocornea-mental retardation syndrome: an additional case report.

The Cohen syndrome: report of a case.

An azoospermic male with an unbalanced autosomal-Y translocation.

A nager acrofacial dysostosis syndrome patient with severe respiratory distress syndrome (RDS).

Mevalonic acidemia: first case of Japan.

Germline mutations of the APC gene in two Japanese adenomatous polyposis patients.

Loci Associated With Susceptibility to Biliary Atresia-A Genome-Wide Association Study in Taiwan.

Proteome-wide QTL mapping enables gene-protein-phenotype metabolic network construction in a genetically diverse MASLD mouse model.

Sequence determinants of pathogenicity in glucose-6-phosphatase linked to glycogen storage disease type 1a.

Estimating the Penetrance of PRNP Mutations in Chinese Prion Disease Patients based on the Genome Databases.

Genome-wide linkage and association mapping identified a novel candidate gene, TaGLK-A1, underlying fructan content in wheat grain.

Deletion of ARPKD-associated Pkhd1 gene in mice results in decreased Tfap2b expression and eye abnormalities.

Related Experiment Videos

Novel missense and frameshift mutations in the adrenoleukodystrophy gene

Related Concept Videos

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