Accueil
Marrit M Hitzert
Marrit M Hitzert
Affiliations
Department of Genetics, University of Groningen, UMC Groningen, Groningen, The Netherlands.
Publications (5)
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines.
Orphanet journal of rare diseases
Avec:
M M Hitzert
,
S N van der Crabben
,
G Baldewsingh
,
H K Ploos van Amstel
,
A van den Wijngaard
,
C M A van Ravenswaaij-Arts
,
C W R Zijlmans
Primrose syndrome: Characterization of the phenotype in 42 patients.
Clinical genetics
Avec:
Daniela Melis
,
Daniel Carvalho
,
Tina Barbaro-Dieber
,
Alberto J Espay
,
Michael J Gambello
,
Blanca Gener
,
Erica Gerkes
,
Marrit M Hitzert
,
Hanne B Hove
,
Sandra Jansen
,
Petr E Jira
,
Katherine Lachlan
,
Leonie A Menke
,
Vinodh Narayanan
,
Damara Ortiz
,
Eline Overwater
,
Renata Posmyk
,
Keri Ramsey
,
Alessandro Rossi
,
Renata Lazari Sandoval
,
Constance Stumpel
,
Kyra E Stuurman
,
Viviana Cordeddu
,
Peter Turnpenny
,
Pietro Strisciuglio
,
Marco Tartaglia
,
Sheela Unger
,
Todd Waters
,
Clare Turnbull
,
Raoul C Hennekam
A comparison of the early motor repertoire of very preterm infants and term infants.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Avec:
Sahar Salavati
,
Sietske A Berghuis
,
Tess Bosch
,
Marrit M Hitzert
,
Dyvonne H Baptist
,
Mirthe J Mebius
,
Arend F Bos
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
PLoS genetics
Avec:
Dov Tiosano
,
Hagit N Baris
,
Anlu Chen
,
Marrit M Hitzert
,
Markus Schueler
,
Federico Gulluni
,
Antje Wiesener
,
Antonio Bergua
,
Adi Mory
,
Brett Copeland
,
Joseph G Gleeson
,
Patrick Rump
,
Hester van Meer
,
Deborah A Sival
,
Volker Haucke
,
Josh Kriwinsky
,
Karl X Knaup
,
André Reis
,
Nadine N Hauer
,
Emilio Hirsch
,
Ronald Roepman
,
Rolph Pfundt
,
Christian T Thiel
,
Michael S Wiesener
,
Mariam G Aslanyan
,
David A Buchner
Expanding the phenotype of anauxetic dysplasia caused by biallelic NEPRO mutations: A case report.
American journal of medical genetics. Part A
Avec:
P Christian Remmelzwaal
,
Martijn V Verhagen
,
Jan D H Jongbloed
,
Peter C van den Akker
,
Hermine E Veenstra-Knol
,
Marrit M Hitzert
Réseau de co-auteurs
M M Hitzert
1 collaboration
S N van der Crabben
1 collaboration
G Baldewsingh
1 collaboration
H K Ploos van Amstel
1 collaboration
A van den Wijngaard
1 collaboration
C M A van Ravenswaaij-Arts
1 collaboration
C W R Zijlmans
1 collaboration
Daniela Melis
1 collaboration
Daniel Carvalho
1 collaboration
Tina Barbaro-Dieber
1 collaboration
Alberto J Espay
1 collaboration
Michael J Gambello
1 collaboration
Blanca Gener
1 collaboration
Erica Gerkes
1 collaboration
Hanne B Hove
1 collaboration
Sandra Jansen
1 collaboration
Petr E Jira
1 collaboration
Katherine Lachlan
1 collaboration
Leonie A Menke
1 collaboration
Vinodh Narayanan
1 collaboration
Damara Ortiz
1 collaboration
Eline Overwater
1 collaboration
Renata Posmyk
1 collaboration
Keri Ramsey
1 collaboration
Alessandro Rossi
1 collaboration
Renata Lazari Sandoval
1 collaboration
Constance Stumpel
1 collaboration
Kyra E Stuurman
1 collaboration
Viviana Cordeddu
1 collaboration
Peter Turnpenny
1 collaboration
Pietro Strisciuglio
1 collaboration
Marco Tartaglia
1 collaboration
Sheela Unger
1 collaboration
Todd Waters
1 collaboration
Clare Turnbull
1 collaboration
Raoul C Hennekam
1 collaboration
Sahar Salavati
1 collaboration
Sietske A Berghuis
1 collaboration
Tess Bosch
1 collaboration
Dyvonne H Baptist
1 collaboration
Mirthe J Mebius
1 collaboration
Arend F Bos
1 collaboration
Dov Tiosano
1 collaboration
Hagit N Baris
1 collaboration
Anlu Chen
1 collaboration
Markus Schueler
1 collaboration
Federico Gulluni
1 collaboration
Antje Wiesener
1 collaboration
Antonio Bergua
1 collaboration
Adi Mory
1 collaboration
Brett Copeland
1 collaboration
Joseph G Gleeson
1 collaboration
Patrick Rump
1 collaboration
Hester van Meer
1 collaboration
Deborah A Sival
1 collaboration
Volker Haucke
1 collaboration
Josh Kriwinsky
1 collaboration
Karl X Knaup
1 collaboration
André Reis
1 collaboration
Nadine N Hauer
1 collaboration
Emilio Hirsch
1 collaboration
Ronald Roepman
1 collaboration
Rolph Pfundt
1 collaboration
Christian T Thiel
1 collaboration
Michael S Wiesener
1 collaboration
Mariam G Aslanyan
1 collaboration
David A Buchner
1 collaboration
P Christian Remmelzwaal
1 collaboration
Martijn V Verhagen
1 collaboration
Jan D H Jongbloed
1 collaboration
Peter C van den Akker
1 collaboration
Hermine E Veenstra-Knol
1 collaboration