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Grazia Maria Simonetta Mancini
Grazia Maria Simonetta Mancini
Publications (4)
Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails.
American journal of human genetics
Avec:
Molly E Kuo
,
Arjan F Theil
,
Anneke Kievit
,
May Christine Malicdan
,
Wendy J Introne
,
Thomas Christian
,
Frans W Verheijen
,
Desiree E C Smith
,
Marisa I Mendes
,
Lidia Hussaarts-Odijk
,
Eric van der Meijden
,
Marjon van Slegtenhorst
,
Martina Wilke
,
Wim Vermeulen
,
Anja Raams
,
Catherine Groden
,
Shino Shimada
,
Rebecca Meyer-Schuman
,
Ya Ming Hou
,
William A Gahl
,
Anthony Antonellis
,
Gajja S Salomons
,
Grazia M S Mancini
Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics
Avec:
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
,
Natalie Canham
,
Krystyna Chrzanowska
,
Yoyo W Y Chu
,
Brain H Y Chung
,
Karin Dahan
,
Marjan De Rademaeker
,
Anne Destree
,
Tracy Dudding-Byth
,
Rachel Earl
,
Nursel Elcioglu
,
Ellen R Elias
,
Christina Fagerberg
,
Alice Gardham
,
Blanca Gener
,
Erica H Gerkes
,
Ute Grasshoff
,
Arie van Haeringen
,
Karin R Heitink
,
Johanna C Herkert
,
Nicolette S den Hollander
,
Denise Horn
,
David Hunt
,
Sarina G Kant
,
Mitsuhiro Kato
,
Hülya Kayserili
,
Rogier Kersseboom
,
Esra Kilic
,
Malgorzata Krajewska-Walasek
,
Kylin Lammers
,
Lone W Laulund
,
Damien Lederer
,
Melissa Lees
,
Vanesa López-González
,
Saskia Maas
,
Grazia M S Mancini
,
Carlo Marcelis
,
Francisco Martinez
,
Isabelle Maystadt
,
Marianne McGuire
,
Shane McKee
,
Sarju Mehta
,
Kay Metcalfe
,
Jeff Milunsky
,
Seiji Mizuno
,
John B Moeschler
,
Christian Netzer
,
Charlotte W Ockeloen
,
Barbara Oehl-Jaschkowitz
,
Nobuhiko Okamoto
,
Sharon N M Olminkhof
,
Carmen Orellana
,
Laurent Pasquier
,
Caroline Pottinger
,
Vera Riehmer
,
Stephen P Robertson
,
Maian Roifman
,
Caroline Rooryck
,
Fabienne G Ropers
,
Monica Rosello
,
Claudia A L Ruivenkamp
,
Mahmut S Sagiroglu
,
Suzanne C E H Sallevelt
,
Amparo Sanchis Calvo
,
Pelin O Simsek-Kiper
,
Gabriela Soares
,
Lucia Solaeche
,
Fatma Mujgan Sonmez
,
Miranda Splitt
,
Duco Steenbeek
,
Alexander P A Stegmann
,
Constance T R M Stumpel
,
Saori Tanabe
,
Eyyup Uctepe
,
G Eda Utine
,
Hermine E Veenstra-Knol
,
Sunita Venkateswaran
,
Catheline Vilain
,
Catherine Vincent-Delorme
,
Anneke T Vulto-van Silfhout
,
Patricia Wheeler
,
Golder N Wilson
,
Louise C Wilson
,
Bernd Wollnik
,
Tomoki Kosho
,
Dagmar Wieczorek
,
Evan Eichler
,
Rolph Pfundt
,
Bert B A de Vries
,
Jill Clayton-Smith
,
Gijs W E Santen
The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics
Avec:
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
,
Natalie Canham
,
Krystyna Chrzanowska
,
Yoyo W Y Chu
,
Brain H Y Chung
,
Karin Dahan
,
Marjan De Rademaeker
,
Anne Destree
,
Tracy Dudding-Byth
,
Rachel Earl
,
Nursel Elcioglu
,
Ellen R Elias
,
Christina Fagerberg
,
Alice Gardham
,
Blanca Gener
,
Erica H Gerkes
,
Ute Grasshoff
,
Arie van Haeringen
,
Karin R Heitink
,
Johanna C Herkert
,
Nicolette S den Hollander
,
Denise Horn
,
David Hunt
,
Sarina G Kant
,
Mitsuhiro Kato
,
Hülya Kayserili
,
Rogier Kersseboom
,
Esra Kilic
,
Malgorzata Krajewska-Walasek
,
Kylin Lammers
,
Lone W Laulund
,
Damien Lederer
,
Melissa Lees
,
Vanesa López-González
,
Saskia Maas
,
Grazia M S Mancini
,
Carlo Marcelis
,
Francisco Martinez
,
Isabelle Maystadt
,
Marianne McGuire
,
Shane McKee
,
Sarju Mehta
,
Kay Metcalfe
,
Jeff Milunsky
,
Seiji Mizuno
,
John B Moeschler
,
Christian Netzer
,
Charlotte W Ockeloen
,
Barbara Oehl-Jaschkowitz
,
Nobuhiko Okamoto
,
Sharon N M Olminkhof
,
Carmen Orellana
,
Laurent Pasquier
,
Caroline Pottinger
,
Vera Riehmer
,
Stephen P Robertson
,
Maian Roifman
,
Caroline Rooryck
,
Fabienne G Ropers
,
Monica Rosello
,
Claudia A L Ruivenkamp
,
Mahmut S Sagiroglu
,
Suzanne C E H Sallevelt
,
Amparo Sanchis Calvo
,
Pelin O Simsek-Kiper
,
Gabriela Soares
,
Lucia Solaeche
,
Fatma Mujgan Sonmez
,
Miranda Splitt
,
Duco Steenbeek
,
Alexander P A Stegmann
,
Constance T R M Stumpel
,
Saori Tanabe
,
Eyyup Uctepe
,
G Eda Utine
,
Hermine E Veenstra-Knol
,
Sunita Venkateswaran
,
Catheline Vilain
,
Catherine Vincent-Delorme
,
Anneke T Vulto-van Silfhout
,
Patricia Wheeler
,
Golder N Wilson
,
Louise C Wilson
,
Bernd Wollnik
,
Tomoki Kosho
,
Dagmar Wieczorek
,
Evan Eichler
,
Rolph Pfundt
,
Bert B A de Vries
,
Jill Clayton-Smith
,
Gijs W E Santen
Disruptive variants of
Science advances
Avec:
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
,
Yu Zhang
,
Chanika Phornphutkul
,
Alexander P A Stegmann
,
Carlos E Prada
,
Robert J Hopkin
,
Joseph T Shieh
,
Kirsty McWalter
,
Kristin G Monaghan
,
Peter M van Hasselt
,
Koen van Gassen
,
Ting Bai
,
Min Long
,
Lin Han
,
Yingting Quan
,
Meilin Chen
,
Yaowen Zhang
,
Kuokuo Li
,
Qiumeng Zhang
,
Jieqiong Tan
,
Tengfei Zhu
,
Yaning Liu
,
Nan Pang
,
Jing Peng
,
Daryl A Scott
,
Seema R Lalani
,
Mahshid Azamian
,
Grazia M S Mancini
,
Darius J Adams
,
Malin Kvarnung
,
Anna Lindstrand
,
Ann Nordgren
,
Jonathan Pevsner
,
Ikeoluwa A Osei-Owusu
,
Corrado Romano
,
Giuseppe Calabrese
,
Ornella Galesi
,
Jozef Gecz
,
Eric Haan
,
Judith Ranells
,
Melissa Racobaldo
,
Magnus Nordenskjold
,
Suneeta Madan-Khetarpal
,
Jessica Sebastian
,
Susie Ball
,
Xiaobing Zou
,
Jingping Zhao
,
Zhengmao Hu
,
Fan Xia
,
Pengfei Liu
,
Jill A Rosenfeld
,
Bert B A de Vries
,
Raphael A Bernier
,
Zhi-Qing David Xu
,
Honghui Li
,
Wei Xie
,
Robert B Hufnagel
,
Evan E Eichler
,
Kun Xia
Réseau de co-auteurs
Grazia M S Mancini
4 collaborations
Alexander P A Stegmann
3 collaborations
Bert B A de Vries
3 collaborations
Pleuntje J van der Sluijs
2 collaborations
Sandra Jansen
2 collaborations
Samantha A Vergano
2 collaborations
Miho Adachi-Fukuda
2 collaborations
Yasemin Alanay
2 collaborations
Adila AlKindy
2 collaborations
Anwar Baban
2 collaborations
Allan Bayat
2 collaborations
Stefanie Beck-Wödl
2 collaborations
Katherine Berry
2 collaborations
Emilia K Bijlsma
2 collaborations
Levinus A Bok
2 collaborations
Alwin F J Brouwer
2 collaborations
Ineke van der Burgt
2 collaborations
Philippe M Campeau
2 collaborations
Natalie Canham
2 collaborations
Krystyna Chrzanowska
2 collaborations
Yoyo W Y Chu
2 collaborations
Brain H Y Chung
2 collaborations
Karin Dahan
2 collaborations
Marjan De Rademaeker
2 collaborations
Anne Destree
2 collaborations
Tracy Dudding-Byth
2 collaborations
Rachel Earl
2 collaborations
Nursel Elcioglu
2 collaborations
Ellen R Elias
2 collaborations
Christina Fagerberg
2 collaborations
Alice Gardham
2 collaborations
Blanca Gener
2 collaborations
Erica H Gerkes
2 collaborations
Ute Grasshoff
2 collaborations
Arie van Haeringen
2 collaborations
Karin R Heitink
2 collaborations
Johanna C Herkert
2 collaborations
Nicolette S den Hollander
2 collaborations
Denise Horn
2 collaborations
David Hunt
2 collaborations
Sarina G Kant
2 collaborations
Mitsuhiro Kato
2 collaborations
Hülya Kayserili
2 collaborations
Rogier Kersseboom
2 collaborations
Esra Kilic
2 collaborations
Malgorzata Krajewska-Walasek
2 collaborations
Kylin Lammers
2 collaborations
Lone W Laulund
2 collaborations
Damien Lederer
2 collaborations
Melissa Lees
2 collaborations
Vanesa López-González
2 collaborations
Saskia Maas
2 collaborations
Carlo Marcelis
2 collaborations
Francisco Martinez
2 collaborations
Isabelle Maystadt
2 collaborations
Marianne McGuire
2 collaborations
Shane McKee
2 collaborations
Sarju Mehta
2 collaborations
Kay Metcalfe
2 collaborations
Jeff Milunsky
2 collaborations
Seiji Mizuno
2 collaborations
John B Moeschler
2 collaborations
Christian Netzer
2 collaborations
Charlotte W Ockeloen
2 collaborations
Barbara Oehl-Jaschkowitz
2 collaborations
Nobuhiko Okamoto
2 collaborations
Sharon N M Olminkhof
2 collaborations
Carmen Orellana
2 collaborations
Laurent Pasquier
2 collaborations
Caroline Pottinger
2 collaborations
Vera Riehmer
2 collaborations
Stephen P Robertson
2 collaborations
Maian Roifman
2 collaborations
Caroline Rooryck
2 collaborations
Fabienne G Ropers
2 collaborations
Monica Rosello
2 collaborations
Claudia A L Ruivenkamp
2 collaborations
Mahmut S Sagiroglu
2 collaborations
Suzanne C E H Sallevelt
2 collaborations
Amparo Sanchis Calvo
2 collaborations
Pelin O Simsek-Kiper
2 collaborations
Gabriela Soares
2 collaborations
Lucia Solaeche
2 collaborations
Fatma Mujgan Sonmez
2 collaborations
Miranda Splitt
2 collaborations
Duco Steenbeek
2 collaborations
Constance T R M Stumpel
2 collaborations
Saori Tanabe
2 collaborations
Eyyup Uctepe
2 collaborations
G Eda Utine
2 collaborations
Hermine E Veenstra-Knol
2 collaborations
Sunita Venkateswaran
2 collaborations
Catheline Vilain
2 collaborations
Catherine Vincent-Delorme
2 collaborations
Anneke T Vulto-van Silfhout
2 collaborations
Patricia Wheeler
2 collaborations
Golder N Wilson
2 collaborations
Louise C Wilson
2 collaborations
Bernd Wollnik
2 collaborations
Tomoki Kosho
2 collaborations
Dagmar Wieczorek
2 collaborations
Evan Eichler
2 collaborations
Rolph Pfundt
2 collaborations
Jill Clayton-Smith
2 collaborations
Gijs W E Santen
2 collaborations
Molly E Kuo
1 collaboration
Arjan F Theil
1 collaboration
Anneke Kievit
1 collaboration
May Christine Malicdan
1 collaboration
Wendy J Introne
1 collaboration
Thomas Christian
1 collaboration
Frans W Verheijen
1 collaboration
Desiree E C Smith
1 collaboration
Marisa I Mendes
1 collaboration
Lidia Hussaarts-Odijk
1 collaboration
Eric van der Meijden
1 collaboration
Marjon van Slegtenhorst
1 collaboration
Martina Wilke
1 collaboration
Wim Vermeulen
1 collaboration
Anja Raams
1 collaboration
Catherine Groden
1 collaboration
Shino Shimada
1 collaboration
Rebecca Meyer-Schuman
1 collaboration
Ya Ming Hou
1 collaboration
William A Gahl
1 collaboration
Anthony Antonellis
1 collaboration
Gajja S Salomons
1 collaboration
Hui Guo
1 collaboration
Ying Li
1 collaboration
Lu Shen
1 collaboration
Tianyun Wang
1 collaboration
Xiangbin Jia
1 collaboration
Lijuan Liu
1 collaboration
Tao Xu
1 collaboration
Mengzhu Ou
1 collaboration
Kendra Hoekzema
1 collaboration
Huidan Wu
1 collaboration
Madelyn A Gillentine
1 collaboration
Cenying Liu
1 collaboration
Hailun Ni
1 collaboration
Pengwei Peng
1 collaboration
Rongjuan Zhao
1 collaboration
Yu Zhang
1 collaboration
Chanika Phornphutkul
1 collaboration
Carlos E Prada
1 collaboration
Robert J Hopkin
1 collaboration
Joseph T Shieh
1 collaboration
Kirsty McWalter
1 collaboration
Kristin G Monaghan
1 collaboration
Peter M van Hasselt
1 collaboration
Koen van Gassen
1 collaboration
Ting Bai
1 collaboration
Min Long
1 collaboration
Lin Han
1 collaboration
Yingting Quan
1 collaboration
Meilin Chen
1 collaboration
Yaowen Zhang
1 collaboration
Kuokuo Li
1 collaboration
Qiumeng Zhang
1 collaboration
Jieqiong Tan
1 collaboration
Tengfei Zhu
1 collaboration
Yaning Liu
1 collaboration
Nan Pang
1 collaboration
Jing Peng
1 collaboration
Daryl A Scott
1 collaboration
Seema R Lalani
1 collaboration
Mahshid Azamian
1 collaboration
Darius J Adams
1 collaboration
Malin Kvarnung
1 collaboration
Anna Lindstrand
1 collaboration
Ann Nordgren
1 collaboration
Jonathan Pevsner
1 collaboration
Ikeoluwa A Osei-Owusu
1 collaboration
Corrado Romano
1 collaboration
Giuseppe Calabrese
1 collaboration
Ornella Galesi
1 collaboration
Jozef Gecz
1 collaboration
Eric Haan
1 collaboration
Judith Ranells
1 collaboration
Melissa Racobaldo
1 collaboration
Magnus Nordenskjold
1 collaboration
Suneeta Madan-Khetarpal
1 collaboration
Jessica Sebastian
1 collaboration
Susie Ball
1 collaboration
Xiaobing Zou
1 collaboration
Jingping Zhao
1 collaboration
Zhengmao Hu
1 collaboration
Fan Xia
1 collaboration
Pengfei Liu
1 collaboration
Jill A Rosenfeld
1 collaboration
Raphael A Bernier
1 collaboration
Zhi-Qing David Xu
1 collaboration
Honghui Li
1 collaboration
Wei Xie
1 collaboration
Robert B Hufnagel
1 collaboration
Evan E Eichler
1 collaboration
Kun Xia
1 collaboration