Biochemical and molecular genetics of cystic fibrosis

Complex tools and motor-to-mechanical transformations.

Scientific reports·2022

SIAH ubiquitin ligases target the nonreceptor tyrosine kinase ACK1 for ubiquitinylation and proteasomal degradation.

Oncogene·2012

Ubiquitin conjugase UBCH8 targets active FMS-like tyrosine kinase 3 for proteasomal degradation.

Leukemia·2010

Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.

Genetic testing·2002

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.

Genomics·2001

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Nature genetics·2001

Genetic aspects of immunoglobulin A deficiency.

Advances in human genetics·1990

Structural defects in inherited and giant platelet disorders.

Advances in human genetics·1990

Yeast Knockout Strain Collection: Driving Functional Genomics, Biotechnological Applications and Human Disease Research.

Yeast (Chichester, England)·2026

Co-segregation of WFS1 p.Gly494Ser variant with recurrent vasovagal syncope in a multigenerational family: a candidate susceptibility variant needing independent validation.

Frontiers in pediatrics·2026

Chromosome painting in plants: history and future perspectives.

Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology·2026

A chromosome-scale genome of Capsicum pubescens provides insights into candidate terpene-associated gene clusters and pan variation of terpene synthases.

Planta·2026

Identification of Two Novel Compound Heterozygous ADAMTS17 Variants Associated With Weill-Marchesani Syndrome 4.

Laboratory investigation; a journal of technical methods and pathology·2026

Genomic inbreeding coefficients and inbreeding depression of semen production traits at genome-wide and chromosomal levels in Japanese Holstein bulls.

Journal of dairy science·2026

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Biochemical and molecular genetics of cystic fibrosis

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Complex tools and motor-to-mechanical transformations.

SIAH ubiquitin ligases target the nonreceptor tyrosine kinase ACK1 for ubiquitinylation and proteasomal degradation.

Ubiquitin conjugase UBCH8 targets active FMS-like tyrosine kinase 3 for proteasomal degradation.

Spectrum of mutations in the CFTR gene of patients with classical and atypical forms of cystic fibrosis from southwestern Sweden: identification of 12 novel mutations.

Identification of the human cortactin-binding protein-2 gene from the autism candidate region at 7q31.

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.

Genetic aspects of immunoglobulin A deficiency.

Structural defects in inherited and giant platelet disorders.

Yeast Knockout Strain Collection: Driving Functional Genomics, Biotechnological Applications and Human Disease Research.

Co-segregation of WFS1 p.Gly494Ser variant with recurrent vasovagal syncope in a multigenerational family: a candidate susceptibility variant needing independent validation.

Chromosome painting in plants: history and future perspectives.

A chromosome-scale genome of Capsicum pubescens provides insights into candidate terpene-associated gene clusters and pan variation of terpene synthases.

Identification of Two Novel Compound Heterozygous ADAMTS17 Variants Associated With Weill-Marchesani Syndrome 4.

Genomic inbreeding coefficients and inbreeding depression of semen production traits at genome-wide and chromosomal levels in Japanese Holstein bulls.

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Biochemical and molecular genetics of cystic fibrosis

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