List of works - Johannes Zschocke

A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature

scientific article published on 29 October 2018

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides

scientific article published on 03 March 2020

Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration ⬇️

scientific article published on October 21, 2010

Combined Dup(7)(q22.1q32.2), Inv(7)(q31.31q31.33), and Ins(7;19)(q22.1;p13.2p13.2) in a 12-year-old boy with developmental delay and various dysmorphism ⬇️

scientific article published on April 19, 2013

Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene ⬇️

scientific article published on June 8, 2011

Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry

scientific article published on October 27, 2010

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

scientific article published on 2 February 2015

Formation of 3-hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl-CoA dehydrogenase

scientific article published on 26 March 2019

HSD10 disease: clinical consequences of mutations in the HSD17B10 gene ⬇️

scientific article published on November 30, 2011

High frequency of p.Thr93Met in Smith‐Lemli‐Opitz syndrome patients in Turkey ⬇️

scientific article published on December 28, 2011

Inborn errors of metabolism with 3‐methylglutaconic aciduria as discriminative feature: proper classification and nomenclature ⬇️

scientific article published on 08 January 2013

Maternal ABCA1 genotype is associated with severity of Smith–Lemli–Opitz syndrome and with viability of patients homozygous for null mutations ⬇️

scientific article published on August 29, 2012

Newborn screening as a predictive genetic test: principles and challenges ⬇️

scientific article published on March 28, 2012

PEDIA: prioritization of exome data by image analysis

scientific article published on 05 June 2019

Periodontal manifestations of Ehlers-Danlos syndromes: A systematic review

scientific article published on 23 August 2017

Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21) ⬇️

scientific article published on November 1, 2010

Single nucleotide polymorphism array analysis in men with idiopathic azoospermia or oligoasthenozoospermia syndrome ⬇️

scientific article published on April 8, 2013

List of works by Johannes Zschocke