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Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism
Heterozygous ANKRD17 loss of function variants cause a syndrome with intellectual disability, speech delay and dysmorphism
2021
Maya Chopra
Meriel McEntagart
Jill Clayton-Smith
Konrad Platzer
Anju Shukla
Katta M. Girisha
Anupriya Kaur
Parmeet Kaur
Rolph Pfundt
Hermine Veenstra-Knol
Grazia M. Mancini
Gerarda Capuccio
Nicola Brunetti-Pierri
Fanny Kortüm
Maja Hempel
Jonas Denecke
Anna Lehman
Tjitske Kleefstra
Kyra Stuurman
Martina Wilke
Michelle L. Thompson
Martina Bebin
Emilia Bijlsma
Mariette Hoffer
Cacha Peters-Scholte
Anne Slavotinek
William Weiss
Tiffany Yip
Ugur Hodoglugil
Amy Whittle
Janette DiMonda
Juanita Neira
Sandra Yang
Amelia Kirby
Hailey Pinz
Rosan Lechner
Frank Sleutels
Ingo Helbig
Sarah McKeown
Katherine Helbig
Naomi Yachelevich
Rebecca Wilaert
Jane Juusola
Jennifer Semotok
Médard Hadonou
John Short
Sajel Lala
Alberto Fernández-Jaén
Janvier Porta Pelayo
Chiara Kloechner
Susanne Kamphausen
Rami Jamra
Maria Arélin
Micheil Innes
Anni Niskakoski
Sam Amin
Maggie Williams
Julie Evans
Sarah Smithson
Damien Smedley
Anna de Burca
Usha Kini
Stanislas Lyonnet
Jeanne Amiel
Christopher Gordon
Keywords:
Intellectual disability
Speech delay
Loss function
Audiology
Medicine
Correction
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