List of works - Deborah Krakow

A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio

scientific article published on 11 February 2019

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

scientific article published on 12 May 2017

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

scientific article

Detection of Y chromosome material in a 46,XX male with SRY translocation: novel application of cell-free fetal DNA testing.

scientific article published on 2 June 2015

Dominant-negative SOX9 mutations in campomelic dysplasia

scientific article published on 26 August 2019

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

scientific article published on 25 October 2017

Fetal cardiac rhabdomyomas treated with maternal sirolimus

scientific article published on 02 January 2020

Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase

scientific article published on 19 February 2019

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

scientific article

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

scientific article published on 14 October 2020

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

scientific article published on 10 April 2017

NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot

scientific article published on 24 January 2018

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders

scientific article published on 03 July 2014

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling

scientific article published on 01 September 2018

The inositol phosphatase SHIP2 enables sustained ERK activation downstream of FGF receptors by recruiting Src kinases

scientific article published on 18 September 2018

The α2 chain of type IX collagen is essential for type IX collagen biosynthesis

scientific article published on 03 June 2019

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia

scientific article

List of works by Deborah Krakow

A new biometric: In utero growth curves for metacarpal and phalangeal lengths reveal an embryonic patterning ratio

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Detection of Y chromosome material in a 46,XX male with SRY translocation: novel application of cell-free fetal DNA testing.

Dominant-negative SOX9 mutations in campomelic dysplasia

Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.

Fetal cardiac rhabdomyomas treated with maternal sirolimus

Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase

MED resulting from recessively inherited mutations in the gene encoding calcium-activated nucleotidase CANT1.

Mutations in GRK2 cause Jeune syndrome by impairing Hedgehog and canonical Wnt signaling

Mutations in IFT-A satellite core component genes IFT43 and IFT121 produce short rib polydactyly syndrome with distinctive campomelia.

NRP1 haploinsufficiency predisposes to the development of Tetralogy of Fallot

Prenatal and postnatal findings in serpentine fibula polycystic kidney syndrome and a review of the NOTCH2 spectrum disorders

The PTH/PTHrP-SIK3 pathway affects skeletogenesis through altered mTOR signaling

The inositol phosphatase SHIP2 enables sustained ERK activation downstream of FGF receptors by recruiting Src kinases

The α2 chain of type IX collagen is essential for type IX collagen biosynthesis

Whole-genome analysis reveals that mutations in inositol polyphosphate phosphatase-like 1 cause opsismodysplasia