Kazimierz S. Kozlowski

Sydney, NSW, Australia

Last Updated: 09/26/2026

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Found 10 publications

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.

The First Report of Biallelic Missense Mutations in the SFRP4 Gene Causing Pyle Disease in Two Siblings.

Journal: Frontiers in genetics

Published: August 10, 2020

Retraction Note to: Stickler syndrome report of a second Australian family.

Retraction Note to: Stickler syndrome report of a second Australian family.

Journal: Pediatric radiology

Published: July 12, 2020

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation.

Journal: American journal of medical genetics. Part A

Published: August 10, 2017

SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.

SMD Kozlowski type caused by p.Arg594His substitution in TRPV4 reveals abnormal ossification and notochordal remnants in discs and vertebrae.

Journal: European journal of medical genetics

Published: October 31, 2016

Proteomic identification of turkey (Meleagris gallopavo) seminal plasma proteins.

Proteomic identification of turkey (Meleagris gallopavo) seminal plasma proteins.

Journal: Poultry science

Published: September 21, 2016

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Journal: Journal of human genetics

Published: November 01, 2015

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.

Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.

Journal: Journal of human genetics

Published: July 30, 2015

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

Novel mutation in the BMPR1B gene (R486L) in a Polish family and further delineation of the phenotypic features of BMPR1B-related brachydactyly.

Journal: Birth defects research. Part A, Clinical and molecular teratology

Published: March 18, 2015

Bisphosphonate therapy for painless fracture: change of HSAN 1 clinical course with biphosphonate and Vitamin D therapy.

Bisphosphonate therapy for painless fracture: change of HSAN 1 clinical course with biphosphonate and Vitamin D therapy.

Journal: Journal of musculoskeletal & neuronal interactions

Published: September 06, 2012

A new form or a variant of SMD type A4.

A new form or a variant of SMD type A4.

Journal: Journal of applied genetics

Published: December 21, 2011

Showing 1-10 of 10

Last Updated: 09/26/2026