List of works - Klaus Dieterich

"Lowe syndrome: A particularly severe phenotype without clinical kidney involvement".

scientific article published on 11 December 2017

A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita

scientific article published on 08 July 2021

A framework to identify contributing genes in patients with Phelan-McDermid syndrome.

scientific article

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

article

CHRNG-related nonlethal multiple pterygium syndrome: Muscle imaging pattern and clinical, histopathological, and molecular genetic findings

scientific article published on 14 March 2019

Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care

scientific article published on 13 August 2019

Classification of arthrogryposis

scientific article published on 04 July 2019

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A-Related Syndrome

scientific article published on 07 February 2022

Common data elements and minimum data sets in cerebral palsy: Start small to grow big

scientific article published in 2022

Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variant

scientific article published on 15 September 2020

DOORS syndrome and a recurrent truncating ATP6V1B2 variant

scientific article published on 02 September 2020

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

scientific article published in 2022

International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita

scientific article published on 07 July 2019

Microdeletion del(22)(q12.1) excluding the MN1 gene in a patient with craniofacial anomalies

scientific article published on 06 November 2015

PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans

scientific article published on 7 March 2017

Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

scientific article published on 18 February 2020

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature

scientific article published on 01 August 2019

Using deep-neural-network-driven facial recognition to identify distinct Kabuki syndrome 1 and 2 gestalt

scientific article published in 2021

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis

scientific article published on 08 February 2019

List of works by Klaus Dieterich