Researcher
Alexander Stegmann
Groningen University Medical Centre
Statistics
88 papers found
Papers authored by Alexander Stegmann
Refreshing results…
2021
Elke de Boer 
,
Jeroen van Reeuwijk,
Peter J. van der Spek,
Sigrid M. A. Swagemakers,
Irene Valenzuela,
Eléonore Viora-Dupont,
Antonio Vitobello,
Stephanie M. Ware,
Mathys Wéber,
Lisenka E. L. M. Vissers,
Maggie M. K. Wong,
Charlotte W. Ockeloen,
Boer Ed,
Rosalie A. Kampen,
Lukas Lütje
and 42 other authors
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,
Jeroen van Reeuwijk,
Peter J. van der Spek,
Sigrid M. A. Swagemakers,
Irene Valenzuela,
Eléonore Viora-Dupont,
Antonio Vitobello,
Stephanie M. Ware,
Mathys Wéber,
Lisenka E. L. M. Vissers,
Maggie M. K. Wong,
Charlotte W. Ockeloen,
Boer Ed,
Rosalie A. Kampen,
Lukas Lütje
and 42 other authors
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Joery den Hoed,
Elke de Boer,
Norine Voisin,
Alexander Jm M. Dingemans,
Nicolas Guex ,
Laurens Wiel ,
Christoffer Nellaker,
Emmanuèlle C. Délot,
Florence Démurger,
Shivarajan M. Amudhavalli,
Christel Depienne,
Siddharth Banka,
Dian Donnai,
Y. Hamzavi Abedi,
David A. Dyment
and 85 other authors
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,
Laurens Wiel ,
Christoffer Nellaker,
Emmanuèlle C. Délot,
Florence Démurger,
Shivarajan M. Amudhavalli,
Christel Depienne,
Siddharth Banka,
Dian Donnai,
Y. Hamzavi Abedi,
David A. Dyment
and 85 other authors
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2020
Laura Bryant,
Khadija Wilson,
Klaas J. Wierenga,
Alexandrea Wadley,
Jiddeke van de Kamp,
Marcia C. Willing,
Matias Wagner,
Juliane Winkelmann,
Tim M. Strom,
Zuo-Fei Yuan,
Monica H. Wojcik,
Katrin Õunap,
Elaine Zackai,
Eric Vilain,
Jijun Wan
and 117 other authors
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D. L. Polla,
E. J. Bhoj,
J. B. G. M. Verheij,
J. S. Klein Wassink-Ruiter,
A. Reis,
C. Deshpande,
A. Gregor,
K. Hill-Karfe,
A. T. Vulto-Van Silfhout,
R. Pfundt,
E. M. H. F. Bongers,
H. Hakonarson,
S. Berland,
G. Gradek,
S. Banka
and 17 other authors
De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females
Download from www.nature.com
Davor Lessel ,
Daniela M. Zeitler,
Margot R. F. Reijnders ,
Andriy Kazantsev ,
Fatemeh Hassani Nia ,
Alexander Bartholomäus ,
Victoria Martens,
Astrid Bruckmann,
Veronika Graus,
Allyn McConkie-Rosell,
Marie McDonald,
Bernarda Lozic,
Ee-Shien Tan,
Erica Gerkes,
Jessika Johannsen
and 52 other authors
,
Daniela M. Zeitler,
Margot R. F. Reijnders ,
Andriy Kazantsev ,
Fatemeh Hassani Nia ,
Alexander Bartholomäus ,
Victoria Martens,
Astrid Bruckmann,
Veronika Graus,
Allyn McConkie-Rosell,
Marie McDonald,
Bernarda Lozic,
Ee-Shien Tan,
Erica Gerkes,
Jessika Johannsen
and 52 other authors
Germline AGO2 mutations impair RNA interference and human neurological development
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Felix Marbach,
Magdeldin Elgizouli,
Megan Rech,
Jasmin Beygo,
Florian Erger,
Clara Velmans,
Constance T. R. M. Stumpel,
Alexander P. A. Stegmann ,
Stefanie Beck-Wödl,
Gabriele Gillessen-Kaesbach,
Bernhard Horsthemke,
Christian P. Schaaf,
Alma Kuechler
,
Stefanie Beck-Wödl,
Gabriele Gillessen-Kaesbach,
Bernhard Horsthemke,
Christian P. Schaaf,
Alma Kuechler
The adult phenotype of Schaaf-Yang syndrome
Download from link.springer.com
Noelle Sterling,
Anna R. Duncan,
Raehee Park,
David A. Koolen,
Jiahai Shi,
Seo-Hee Cho,
Paul J. Benke,
Patricia E. Grant,
Casie A. Genetti,
Grace E. VanNoy,
Jane Juusola,
Kirsty McWalter,
Jillian S. Parboosingh,
Ryan E. Lamont,
Francois P. Bernier
and 6 other authors
De novo variants in MPP5 cause global developmental delay and behavioral changes
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Ronald H. M. A. Bartels,
J. Andre Grotenhuis,
Alexander P. A. Stegmann ,
Han Brunner
Download from link.springer.com
,
Han Brunner
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Annemarie C. S. Knijnenburg,
Joost Nicolai,
Levinus A. Bok,
Akin Bay,
Alexander P. A. Stegmann ,
Margje Sinnema,
Maaike Vreeburg
,
Margje Sinnema,
Maaike Vreeburg
Acute encephalopathy after head trauma in a patient with a RHOBTB2 mutation
Download from doi.org
Jorge Luis Granadillo,
Alexander P. A. Stegmann ,
Hui Guo ,
Kun Xia,
Brad Angle,
Kelly Bontempo,
Judith D. Ranells,
Patricia Newkirk,
Carrie Costin,
Joleen Viront,
Constanze T. Stumpel,
Margje Sinnema,
Bianca Panis,
Rolph Pfundt,
Ingrid P. C. Krapels
and 20 other authors
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,
Hui Guo ,
Kun Xia,
Brad Angle,
Kelly Bontempo,
Judith D. Ranells,
Patricia Newkirk,
Carrie Costin,
Joleen Viront,
Constanze T. Stumpel,
Margje Sinnema,
Bianca Panis,
Rolph Pfundt,
Ingrid P. C. Krapels
and 20 other authors
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2019
Chantal Kerkhofs,
Servi J. C. Stevens ,
Saul N. Faust,
William Rae,
Anthony P. Williams,
Peter Wurm,
Rune Østern,
Paul Fockens,
Christiane Würfel,
Martin Laass,
Freddy Kokke,
Alexander P. A. Stegmann ,
Han G. Brunner
,
Saul N. Faust,
William Rae,
Anthony P. Williams,
Peter Wurm,
Rune Østern,
Paul Fockens,
Christiane Würfel,
Martin Laass,
Freddy Kokke,
Alexander P. A. Stegmann ,
Han G. Brunner
Mutations inRPSAandNKX2‐3link development of the spleen and intestinal vasculature
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Hui Guo ,
Ying Li ,
Lu Shen ,
Tianyun Wang ,
Xiangbin Jia,
Lijuan Liu,
Tao Xu,
Mengzhu Ou,
Kendra Hoekzema,
Huidan Wu,
Madelyn A. Gillentine,
Cenying Liu,
Hailun Ni,
Pengwei Peng,
Rongjuan Zhao
and 58 other authors
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,
Ying Li ,
Lu Shen ,
Tianyun Wang ,
Xiangbin Jia,
Lijuan Liu,
Tao Xu,
Mengzhu Ou,
Kendra Hoekzema,
Huidan Wu,
Madelyn A. Gillentine,
Cenying Liu,
Hailun Ni,
Pengwei Peng,
Rongjuan Zhao
and 58 other authors
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Konrad Platzer,
Heinrich Sticht,
Stacey L. Edwards,
William Allen,
Kaitlin M. Angione,
Maria T. Bonati,
Campbell Brasington,
Megan T. Cho,
Laurie A. Demmer,
Tzipora Falik-Zaccai,
Candace N. Gamble,
Yorck Hellenbroich,
Maria Iascone ,
Fernando Kok,
Sonal Mahida
and 19 other authors
,
Fernando Kok,
Sonal Mahida
and 19 other authors
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
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Pleuntje J. van der Sluijs,
Sandra Jansen,
Samantha A. Vergano,
Miho Adachi-Fukuda,
Yasemin Alanay,
Adila AlKindy,
Anwar Baban,
Allan Bayat,
Stefanie Beck-Wödl,
Katherine Berry,
Emilia K. Bijlsma,
Levinus A. Bok,
Alwin F. J. Brouwer,
Ineke van der Burgt,
Philippe M. Campeau
and 90 other authors
Download from www.nature.com
Sandra Jansen ,
Ilse M. van der Werf ,
A. Micheil Innes ,
A. Micheil Innes,
Alexandra Afenjar,
Pankaj B. Agrawal,
Ilse J. Anderson,
Paldeep S. Atwal,
Ellen van Binsbergen,
Marie-José van den Boogaard,
Lucia Castiglia,
Zeynep H. Coban-Akdemir,
Anke van Dijck ,
Diane Doummar,
Albertien M. van Eerde
and 38 other authors
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,
Ilse M. van der Werf ,
A. Micheil Innes ,
A. Micheil Innes,
Alexandra Afenjar,
Pankaj B. Agrawal,
Ilse J. Anderson,
Paldeep S. Atwal,
Ellen van Binsbergen,
Marie-José van den Boogaard,
Lucia Castiglia,
Zeynep H. Coban-Akdemir,
Anke van Dijck ,
Diane Doummar,
Albertien M. van Eerde
and 38 other authors
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2018
Francesca M. Snoeijen-Schouwenaars,
Jans S. van Ool,
Judith S. Verhoeven,
Petra van Mierlo,
Hilde M. H. Braakman ,
Eric E. Smeets,
Joost Nicolai,
Jeroen Schoots,
Mariel W. A. Teunissen,
Rob P. W. Rouhl,
In Y. Tan ,
Helger G. Yntema,
Han G. Brunner,
Rolph Pfundt,
Alexander P. Stegmann
and 3 other authors
Download from api.wiley.com
,
Eric E. Smeets,
Joost Nicolai,
Jeroen Schoots,
Mariel W. A. Teunissen,
Rob P. W. Rouhl,
In Y. Tan ,
Helger G. Yntema,
Han G. Brunner,
Rolph Pfundt,
Alexander P. Stegmann
and 3 other authors
Download from api.wiley.com
Pleuntje J. van der Sluijs,
Samantha A. Vergano,
Ineke van der Burgt,
Miho Adachi-Fukuda,
Yasemin Alanay,
Adila AlKindy,
Anwar Baban,
Arie van Haeringen,
Allan Bayat,
Nicolette S. den Hollander,
Stefanie Beck-Wödl,
Sarina G. Kant,
Katherine Berry,
Mitsuhiro Kato,
Emilia K. Bijlsma
and 90 other authors
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Johanne Dubail,
Céline Huber,
Sandrine Chantepie,
Stephan Sonntag,
Beyhan Tüysüz,
Ercan Mihci,
Christopher T. Gordon ,
Elisabeth Steichen-Gersdorf,
Jeanne Amiel,
Banu Nur,
Irene Stolte-Dijkstra,
Albertien M. van Eerde,
Koen L. van Gassen,
Corstiaan C. Breugem,
Alexander Stegmann
and 9 other authors
Download from www.nature.com
,
Elisabeth Steichen-Gersdorf,
Jeanne Amiel,
Banu Nur,
Irene Stolte-Dijkstra,
Albertien M. van Eerde,
Koen L. van Gassen,
Corstiaan C. Breugem,
Alexander Stegmann
and 9 other authors
Download from www.nature.com
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