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1 Ergebnisse
1
The clinical and molecular spectrum of QRICH1 associated ne..:
Kumble, Smitha
;
Levy, Amanda
;
Punetha, Jaya
...
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24308. , 2022
Link:
https://univ-rennes.hal.science/hal-03519376
RT Journal T1
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
UL https://suche.suub.uni-bremen.de/peid=base-ftccsdartic:oai:HAL:hal-03519376v1&Exemplar=1&LAN=DE A1 Kumble, Smitha A1 Levy, Amanda A1 Punetha, Jaya A1 Gao, Hua A1 Ah Mew, Nicholas A1 Anyane-Yeboa, Kwame A1 Benke, Paul A1 Berger, Sara A1 Bjerglund, Lise A1 Campos-Xavier, Belinda A1 Ciliberto, Michael A1 Cohen, Julie A1 Comi, Anne A1 Curry, Cynthia A1 Damaj, Lena A1 Denommé-Pichon, Anne-Sophie A1 Emrick, Lisa A1 Faivre, Laurence A1 Fasano, Mary Beth A1 Fiévet, Alice A1 Finkel, Richard A1 García-Miñaúr, Sixto A1 Gerard, Amanda A1 Gomez-Puertas, Paulino A1 Guillen Sacoto, Maria A1 Hoffman, Trevor A1 Howard, Lillian A1 Iglesias, Alejandro A1 Izumi, Kosuke A1 Larson, Austin A1 Leiber, Anja A1 Lozano, Reymundo A1 Marcos-Alcalde, Iñigo A1 Mintz, Cassie A1 Mullegama, Sureni A1 Møller, Rikke A1 Odent, Sylvie A1 Oppermann, Henry A1 Ostergaard, Elsebet A1 Pacio-Míguez, Marta A1 Palomares-Bralo, Maria A1 Parikh, Sumit A1 Paulson, Anna A1 Platzer, Konrad A1 Posey, Jennifer A1 Potocki, Lorraine A1 Revah-Politi, Anya A1 Rio, Marlene A1 Ritter, Alyssa A1 Robinson, Scott A1 Rosenfeld, Jill A1 Santos-Simarro, Fernando A1 Anyane‐yeboa, Kwame A1 Campos‐xavier, Belinda A1 Denommé‐pichon, Anne‐sophie A1 García‐miñaúr, Sixto A1 Gomez‐puertas, Paulino A1 Marcos‐alcalde, Iñigo A1 Pacio‐míguez, Marta A1 Palomares‐bralo, Maria A1 Revah‐politi, Anya A1 Santos‐simarro, Fernando A1 Sombra, Sérgio Sousa A1 Wéber, Mathys A1 Xie, Yili A1 Chung, Wendy K A1 Brown, Natasha, J A1 Tümer, Zeynep PB HAL CCSD; Wiley YR 2022 K1 QRICH1 K1 hypotonia K1 intellectual disability K1 short stature K1 variable expressivity K1 variant K1 [SDV]Life Sciences [q-bio] JF info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.24308 LK http://dx.doi.org/https://univ-rennes.hal.science/hal-03519376 DO https://univ-rennes.hal.science/hal-03519376 SF ELIB - SuUB Bremen
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