Showing 1–14 of 14 results
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Amendments and Corrections |
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Amendments and Corrections |
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Amendments and Corrections |
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Research |
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Research |
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Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
- Thomas E Neumann
- , Judith Allanson
- , Ines Kavamura
- , Bronwyn Kerr
- , Giovanni Neri
- , Jacqueline Noonan
- , Viviana Cordeddu
- , Kate Gibson
- , Andreas Tzschach
- , Gabriele Krüger
- , Maria Hoeltzenbein
- , Timm O Goecke
- , Hans Gerd Kehl
- , Beate Albrecht
- , Klaudiusz Luczak
- , Maria M Sasiadek
- , Luciana Musante
- , Rohan Laurie
- , Hartmut Peters
- , Marco Tartaglia
- , Martin Zenker
- & Vera Kalscheuer
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Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1
- Lars R Jensen
- , Wei Chen
- , Bettina Moser
- , Bettina Lipkowitz
- , Christopher Schroeder
- , Luciana Musante
- , Andreas Tzschach
- , Vera M Kalscheuer
- , Ilaria Meloni
- , Martine Raynaud
- , Hilde van Esch
- , Jamel Chelly
- , Arjan P M de Brouwer
- , Anna Hackett
- , Sigrun van der Haar
- , Wolfram Henn
- , Jozef Gecz
- , Olaf Riess
- , Michael Bonin
- , Richard Reinhardt
- , Hans-Hilger Ropers
- & Andreas W Kuss
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Research |
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
- Vera M Kalscheuer
- , Kristine Freude
- , Luciana Musante
- , Lars R Jensen
- , Helger G Yntema
- , Jozef Gécz
- , Abdelaziz Sefiani
- , Kirsten Hoffmann
- , Bettina Moser
- , Stefan Haas
- , Ulf Gurok
- , Sebastian Haesler
- , Beatriz Aranda
- , Arpik Nshedjan
- , Andreas Tzschach
- , Nils Hartmann
- , Tim-Christoph Roloff
- , Sarah Shoichet
- , Olivier Hagens
- , Jiong Tao
- , Hans van Bokhoven
- , Gillian Turner
- , Jamel Chelly
- , Claude Moraine
- , Jean-Pierre Fryns
- , Ulrike Nuber
- , Maria Hoeltzenbein
- , Constance Scharff
- , Harry Scherthan
- , Steffen Lenzner
- , Ben C J Hamel
- , Susann Schweiger
- & Hans-Hilger Ropers
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Research |
Genetics of intellectual disability in consanguineous families
- Hao Hu
- , Kimia Kahrizi
- , Luciana Musante
- , Zohreh Fattahi
- , Ralf Herwig
- , Masoumeh Hosseini
- , Cornelia Oppitz
- , Seyedeh Sedigheh Abedini
- , Vanessa Suckow
- , Farzaneh Larti
- , Maryam Beheshtian
- , Bettina Lipkowitz
- , Tara Akhtarkhavari
- , Sepideh Mehvari
- , Sabine Otto
- , Marzieh Mohseni
- , Sanaz Arzhangi
- , Payman Jamali
- , Faezeh Mojahedi
- , Maryam Taghdiri
- , Elaheh Papari
- , Mohammad Javad Soltani Banavandi
- , Saeide Akbari
- , Seyed Hassan Tonekaboni
- , Hossein Dehghani
- , Mohammad Reza Ebrahimpour
- , Ingrid Bader
- , Behzad Davarnia
- , Monika Cohen
- , Hossein Khodaei
- , Beate Albrecht
- , Sarah Azimi
- , Birgit Zirn
- , Milad Bastami
- , Dagmar Wieczorek
- , Gholamreza Bahrami
- , Krystyna Keleman
- , Leila Nouri Vahid
- , Andreas Tzschach
- , Jutta Gärtner
- , Gabriele Gillessen-Kaesbach
- , Jamileh Rezazadeh Varaghchi
- , Bernd Timmermann
- , Fatemeh Pourfatemi
- , Aria Jankhah
- , Wei Chen
- , Pooneh Nikuei
- , Vera M. Kalscheuer
- , Morteza Oladnabi
- , Thomas F. Wienker
- , Hans-Hilger Ropers
- & Hossein Najmabadi
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Research |
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration
- Zafar Iqbal
- , Lucia Püttmann
- , Luciana Musante
- , Attia Razzaq
- , Muhammad Yasir Zahoor
- , Hao Hu
- , Thomas F Wienker
- , Masoud Garshasbi
- , Zohreh Fattahi
- , Christian Gilissen
- , Lisenka ELM Vissers
- , Arjan PM de Brouwer
- , Joris A Veltman
- , Rolph Pfundt
- , Hossein Najmabadi
- , Hans-Hilger Ropers
- , Sheikh Riazuddin
- , Kimia Kahrizi
- & Hans van Bokhoven
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Research |
Redefining the MED13L syndrome
- Abidemi Adegbola
- , Luciana Musante
- , Bert Callewaert
- , Patricia Maciel
- , Hao Hu
- , Bertrand Isidor
- , Sylvie Picker-Minh
- , Cedric Le Caignec
- , Barbara Delle Chiaie
- , Olivier Vanakker
- , Björn Menten
- , Annelies Dheedene
- , Nele Bockaert
- , Filip Roelens
- , Karin Decaestecker
- , João Silva
- , Gabriela Soares
- , Fátima Lopes
- , Hossein Najmabadi
- , Kimia Kahrizi
- , Gerald F Cox
- , Steven P Angus
- , John F Staropoli
- , Ute Fischer
- , Vanessa Suckow
- , Oliver Bartsch
- , Andrew Chess
- , Hans-Hilger Ropers
- , Thomas F Wienker
- , Christoph Hübner
- , Angela M Kaindl
- & Vera M Kalscheuer
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Research |
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
- Hossein Najmabadi
- , Hao Hu
- , Masoud Garshasbi
- , Tomasz Zemojtel
- , Seyedeh Sedigheh Abedini
- , Wei Chen
- , Masoumeh Hosseini
- , Farkhondeh Behjati
- , Stefan Haas
- , Payman Jamali
- , Agnes Zecha
- , Marzieh Mohseni
- , Lucia Püttmann
- , Leyla Nouri Vahid
- , Corinna Jensen
- , Lia Abbasi Moheb
- , Melanie Bienek
- , Farzaneh Larti
- , Ines Mueller
- , Robert Weissmann
- , Hossein Darvish
- , Klaus Wrogemann
- , Valeh Hadavi
- , Bettina Lipkowitz
- , Sahar Esmaeeli-Nieh
- , Dagmar Wieczorek
- , Roxana Kariminejad
- , Saghar Ghasemi Firouzabadi
- , Monika Cohen
- , Zohreh Fattahi
- , Imma Rost
- , Faezeh Mojahedi
- , Christoph Hertzberg
- , Atefeh Dehghan
- , Anna Rajab
- , Mohammad Javad Soltani Banavandi
- , Julia Hoffer
- , Masoumeh Falah
- , Luciana Musante
- , Vera Kalscheuer
- , Reinhard Ullmann
- , Andreas Walter Kuss
- , Andreas Tzschach
- , Kimia Kahrizi
- & H. Hilger Ropers
