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Jens Michael Hertz | Researchclopedia

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Jens Michael Hertz

University of Southern Denmark ORCID

194

Works

5,672

Citations

40

h-index

99

i10-index

Research Topics

Cell Adhesion Molecules Research Genomic variations and chromosomal abnormalities Prenatal Screening and Diagnostics

Affiliations

University of Copenhagen2007–2007

University of Southern Denmark2012–2025

Aarhus University1986–2013

Université Paris Cité2003–2003

Aalborg University Hospital2012–2012

Top Works

X-linked Alport Syndrome

Jean Philippe Jaïs,Bertrand Knebelmann,et al.

2000581 citations

Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Platelet Disorders and Treatments

X-Linked Alport Syndrome

Jean Philippe Jaïs,Bertrand Knebelmann,et al.

2003474 citations

Transcriptional regulator PRDM12 is essential for human pain perception

Ya-Chun Chen,Michaela Auer‐Grumbach,et al.

2015171 citations

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

Erik‐Jan Kamsteeg,Wolfram Kreß,et al.

2012161 citations

Complete amino acid sequence of the human alpha 5 (IV) collagen chain and identification of a single-base mutation in exon 23 converting glycine 521 in the collagenous domain to cysteine in an Alport syndrome patient.

Jingbin Zhou,Jens Michael Hertz,et al.

1992148 citations

High mutation detection rate in the COL4A5 collagen gene in suspected Alport syndrome using PCR and direct DNA sequencing.

Paula Martin,Niina Heiskari,et al.

1998139 citations

Anthropometry in Klinefelter Syndrome - Multifactorial Influences Due to CAG Length, Testosterone Treatment and Possibly Intrauterine Hypogonadism

Simon Chang,Anne Skakkebæk,et al.

2014135 citations

Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism

Georgia Karadima,Merete Bugge,et al.

1998131 citations

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria

Judy Savige,Helen Storey,et al.

2021121 citations