Lemierre's syndrome after evacuation of the uterus: a case report

por Hedengran, Katrine Kaare, Hertz, Jens
Publicado 2014

Clinical utility gene card for: Alport syndrome – update 2014

por Hertz, Jens Michael, Thomassen, Mads, Storey, Helen, Flinter, Frances
Publicado 2015

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

por Krøigård, Anne Bruun, Clemmensen, Ole, Gjørup, Hans, Hertz, Jens Michael, Bygum, Anette
Publicado 2016

A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature

por Mathorne, Stine Westergaard, Sørensen, Kristina, Fagerberg, Christina, Bode, Matthias, Hertz, Jens Michael
Publicado 2019

Low frequency of parental mosaicism in de novo COL4A5 mutations in X‐linked Alport syndrome

por Helle, Ole Magnus Bjorgaas, Pedersen, Torkild Høieggen, Ousager, Lilian Bomme, Thomassen, Mads, Hertz, Jens Michael
Publicado 2020

The first Danish family reported with an AQP5 mutation presenting diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type, hyperhidrosis and frequent Corynebacterium in...

por Krøigård, Anne Bruun, Hetland, Liv Eline, Clemmensen, Ole, Blaydon, Diana C., Hertz, Jens Michael, Bygum, Anette
Publicado 2016

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip

por Dembic, Maja, van Brakel Andersen, Lars, Larsen, Martin Jakob, Mechlenburg, Inger, Søballe, Kjeld, Hertz, Jens Michael
Publicado 2022

Moebius sequence –a multidisciplinary clinical approach

por Pedersen, Line Kjeldgaard, Maimburg, Rikke Damkjær, Hertz, Jens Michael, Gjørup, Hans, Pedersen, Thomas Klit, Møller-Madsen, Bjarne, Østergaard, John Rosendahl
Publicado 2017

Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation

por Wallentin, Mikkel, Skakkebæk, Anne, Bojesen, Anders, Fedder, Jens, Laurberg, Peter, Østergaard, John R., Hertz, Jens Michael, Pedersen, Anders Degn, Gravholt, Claus Højbjerg
Publicado 2016

A Novel AQP2 Sequence Variant Causing Aquaporin-2 Retention in the Cytoplasm and Autosomal Dominant Nephrogenic Diabetes Insipidus

por Hinrichs, Gitte R., Baltzer, Sandrine, Pallien, Tamara, Svenningsen, Per, Dalgaard, Emil B., Hertz, Jens Michael, Bistrup, Claus, Jensen, Boye L., Klussmann, Enno
Publicado 2022

Myoblasts generated by lentiviral mediated MyoD transduction of myotonic dystrophy type 1 (DM1) fibroblasts can be used for assays of therapeutic molecules

por Larsen, Jan, Pettersson, Olof J, Jakobsen, Maria, Thomsen, Rune, Pedersen, Christina B, Hertz, Jens M, Gregersen, Niels, Corydon, Thomas J, Jensen, Thomas G
Publicado 2011

Skewness of X-chromosome inactivation increases with age and varies across birth cohorts in elderly Danish women

por Mengel-From, Jonas, Lindahl-Jacobsen, Rune, Nygaard, Marianne, Soerensen, Mette, Ørstavik, Karen Helene, Hertz, Jens Michael, Andersen-Ranberg, Karen, Tan, Qihua, Christensen, Kaare
Publicado 2021

Detection of DZIP1L mutations by whole-exome sequencing in consanguineous families with polycystic kidney disease

por Hertz, Jens Michael, Svenningsen, Per, Dimke, Henrik, Engelund, Morten Buch, Nørgaard, Hanne, Hansen, Anita, Marcussen, Niels, Thiesson, Helle Charlotte, Bergmann, Carsten, Larsen, Martin J.
Publicado 2022

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

por Kamsteeg, Erik-Jan, Kress, Wolfram, Catalli, Claudio, Hertz, Jens M, Witsch-Baumgartner, Martina, Buckley, Michael F, van Engelen, Baziel G M, Schwartz, Marianne, Scheffer, Hans
Publicado 2012

Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement

por Skakkebæk, Anne, Moore, Philip J., Pedersen, Anders Degn, Bojesen, Anders, Kristensen, Maria Krarup, Fedder, Jens, Hertz, Jens Michael, Østergaard, John R., Wallentin, Mikkel, Gravholt, Claus Højbjerg
Publicado 2018

Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile()

por Skakkebæk, Anne, Gravholt, Claus Højbjerg, Rasmussen, Peter Mondrup, Bojesen, Anders, Jensen, Jens Søndergaard, Fedder, Jens, Laurberg, Peter, Hertz, Jens Michael, Østergaard, John Rosendahl, Pedersen, Anders Degn, Wallentin, Mikkel
Publicado 2013

Corrigendum to “Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile” [NeuroImage:Clin 4 (2014) 1–9]

por Skakkebæk, Anne, Gravholt, Claus Højbjerg, Rasmussen, Peter Mondrup, Bojesen, Anders, Jensen, Jens Søndergaard, Fedder, Jens, Laurberg, Peter, Hertz, Jens Michael, Østergaard, John Rosendahl, Pedersen, Anders Degn, Wallentin, Mikkel
Publicado 2016

The role of genes, intelligence, personality, and social engagement in cognitive performance in Klinefelter syndrome

por Skakkebæk, Anne, Moore, Philip J., Pedersen, Anders Degn, Bojesen, Anders, Kristensen, Maria Krarup, Fedder, Jens, Laurberg, Peter, Hertz, Jens Michael, Østergaard, John Rosendahl, Wallentin, Mikkel, Gravholt, Claus Højbjerg
Publicado 2017

DNA hypermethylation and differential gene expression associated with Klinefelter syndrome

por Skakkebæk, Anne, Nielsen, Morten Muhlig, Trolle, Christian, Vang, Søren, Hornshøj, Henrik, Hedegaard, Jakob, Wallentin, Mikkel, Bojesen, Anders, Hertz, Jens Michael, Fedder, Jens, Østergaard, John Rosendahl, Pedersen, Jakob Skou, Gravholt, Claus Højbjerg
Publicado 2018

Detailed investigations of proximal tubular function in Imerslund-Gräsbeck syndrome

por Storm, Tina, Zeitz, Christina, Cases, Olivier, Amsellem, Sabine, Verroust, Pierre J, Madsen, Mette, Benoist, Jean-François, Passemard, Sandrine, Lebon, Sophie, Jønsson, Iben Møller, Emma, Francesco, Koldsø, Heidi, Hertz, Jens Michael, Nielsen, Rikke, Christensen, Erik I, Kozyraki, Renata
Publicado 2013