Showing 1–7 of 7 results
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Amendments and Corrections | | Open
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
- Jennifer N. Dines
- , Katie Golden-Grant
- , Amy LaCroix
- , Alison M. Muir
- , Dianne Laboy Cintrón
- , Kirsty McWalter
- , Megan T. Cho
- , Angela Sun
- , J. Lawrence Merritt
- , Jenny Thies
- , Dmitriy Niyazov
- , Barbara Burton
- , Katherine Kim
- , Leah Fleming
- , Rachel Westman
- , Peter Karachunski
- , Joline Dalton
- , Alice Basinger
- , Can Ficicioglu
- , Ingo Helbig
- , Manuela Pendziwiat
- , Hiltrud Muhle
- , Katherine L. Helbig
- , Almuth Caliebe
- , René Santer
- , Kolja Becker
- , Sharon Suchy
- , Ganka Douglas
- , Francisca Millan
- , Amber Begtrup
- , Kristin G. Monaghan
- & Heather C. Mefford
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Research | | Open
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
- Jennifer N. Dines
- , Katie Golden-Grant
- , Amy LaCroix
- , Alison M. Muir
- , Dianne Laboy Cintrón
- , Kirsty McWalter
- , Megan T. Cho
- , Angela Sun
- , J. Lawrence Merritt
- , Jenny Thies
- , Dmitriy Niyazov
- , Barbara Burton
- , Katherine Kim
- , Leah Fleming
- , Rachel Westman
- , Peter Karachunski
- , Joline Dalton
- , Alice Basinger
- , Can Ficicioglu
- , Ingo Helbig
- , Manuela Pendziwiat
- , Hiltrud Muhle
- , Katherine L. Helbig
- , Almuth Caliebe
- , René Santer
- , Kolja Becker
- , Sharon Suchy
- , Ganka Douglas
- , Francisca Millan
- , Amber Begtrup
- , Kristin G. Monaghan
- & Heather C. Mefford
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Amendments and Corrections |
Correction: Corrigendum: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G M Bosch
- , Megan T Cho ScM
- , Jill A Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F Nienke Boonstra
- , Francisca Millan
- , Frans P M Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K Chung
- , Dmitriy Niyazov
- , Juan M Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M Hisama
- , Bert B A de Vries
- & Christian Schaaf
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype–phenotype correlations
- Chun-An Chen
- , Daniëlle G. M. Bosch
- , Megan T. Cho
- , Jill A. Rosenfeld
- , Marwan Shinawi
- , Richard Alan Lewis
- , John Mann
- , Parul Jayakar
- , Katelyn Payne
- , Laurence Walsh
- , Timothy Moss
- , Allison Schreiber
- , Cheri Schoonveld
- , Kristin G. Monaghan
- , Frances Elmslie
- , Ganka Douglas
- , F. Nienke Boonstra
- , Francisca Millan
- , Frans P. M. Cremers
- , Dianalee McKnight
- , Gabriele Richard
- , Jane Juusola
- , Fran Kendall
- , Keri Ramsey
- , Kwame Anyane-Yeboa
- , Elfrida Malkin
- , Wendy K. Chung
- , Dmitriy Niyazov
- , Juan M. Pascual
- , Magdalena Walkiewicz
- , Vivekanand Veluchamy
- , Chumei Li
- , Fuki M. Hisama
- , Bert B. A. de Vries
- & Christian Schaaf
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Amendments and Corrections |
Corrigendum: A copy number variation morbidity map of developmental delay
- Gregory M Cooper
- , Bradley P Coe
- , Santhosh Girirajan
- , Jill A Rosenfeld
- , Tiffany H Vu
- , Carl Baker
- , Charles Williams
- , Heather Stalker
- , Rizwan Hamid
- , Vickie Hannig
- , Hoda Abdel-Hamid
- , Patricia Bader
- , Elizabeth McCracken
- , Dmitriy Niyazov
- , Kathleen Leppig
- , Heidi Thiese
- , Marybeth Hummel
- , Nora Alexander
- , Jerome Gorski
- , Jennifer Kussmann
- , Vandana Shashi
- , Krys Johnson
- , Catherine Rehder
- , Blake C Ballif
- , Lisa G Shaffer
- & Evan E Eichler
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Research | | Open
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Research |
A copy number variation morbidity map of developmental delay
- Gregory M Cooper
- , Bradley P Coe
- , Santhosh Girirajan
- , Jill A Rosenfeld
- , Tiffany H Vu
- , Carl Baker
- , Charles Williams
- , Heather Stalker
- , Rizwan Hamid
- , Vickie Hannig
- , Hoda Abdel-Hamid
- , Patricia Bader
- , Elizabeth McCracken
- , Dmitriy Niyazov
- , Kathleen Leppig
- , Heidi Thiese
- , Marybeth Hummel
- , Nora Alexander
- , Jerome Gorski
- , Jennifer Kussmann
- , Vandana Shashi
- , Krys Johnson
- , Catherine Rehder
- , Blake C Ballif
- , Lisa G Shaffer
- & Evan E Eichler