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  1. Gordon, Maria M. Ogilvie [Author]

    Stratigraphie, Tektonik : mit 36 Tafeln, darunter 3 Karten und 1 Profiltafel in Farbendruck und 63 Textfiguren

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    Wien: Geologische Bundesanst., 1927

    Published in: Gordon, Maria M. Ogilvie: Das Grödener-, Fassa- und Enneberggebiet in den Südtiroler Dolomiten. ; 1/2 - Geologische Bundesanstalt: Abhandlungen der Geologischen Bundesanstalt in Wien ; 24,1/2

  2. Hendrikse, Liam D.; Haldipur, Parthiv; Saulnier, Olivier; Millman, Jake; Sjoboen, Alexandria H.; Erickson, Anders W.; Ong, Winnie; Gordon, Victor; Coudière-Morrison, Ludivine; Mercier, Audrey L.; Shokouhian, Mohammad; Suárez, Raúl A.; Ly, Michelle; Borlase, Stephanie; Scott, David S.; Vladoiu, Maria C.; Farooq, Hamza; Sirbu, Olga; Nakashima, Takuma; Nambu, Shohei; Funakoshi, Yusuke; Bahcheli, Alec; Diaz-Mejia, J. Javier; Golser, Joseph; [...]

    Author Correction: Failure of human rhombic lip differentiation underlies medulloblastoma formation

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    Springer Science and Business Media LLC, 2022

    Published in: Nature

  3. Hendrikse, Liam D.; Haldipur, Parthiv; Saulnier, Olivier; Millman, Jake; Sjoboen, Alexandria H.; Erickson, Anders W.; Ong, Winnie; Gordon, Victor; Coudière-Morrison, Ludivine; Mercier, Audrey L.; Shokouhian, Mohammad; Suárez, Raúl A.; Ly, Michelle; Borlase, Stephanie; Scott, David S.; Vladoiu, Maria C.; Farooq, Hamza; Sirbu, Olga; Nakashima, Takuma; Nambu, Shohei; Funakoshi, Yusuke; Bahcheli, Alec; Diaz-Mejia, J. Javier; Golser, Joseph; [...]

    Failure of human rhombic lip differentiation underlies medulloblastoma formation

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    Springer Science and Business Media LLC, 2022

    Published in: Nature

  4. O’Donnell-Luria, Anne H.; Pais, Lynn S.; Faundes, Víctor; Wood, Jordan C.; Sveden, Abigail; Luria, Victor; Abou Jamra, Rami; Accogli, Andrea; Amburgey, Kimberly; Anderlid, Britt Marie; Azzarello-Burri, Silvia; Basinger, Alice A.; Bianchini, Claudia; Bird, Lynne M.; Buchert, Rebecca; Carre, Wilfrid; Ceulemans, Sophia; Charles, Perrine; Cox, Helen; Culliton, Lisa; Currò, Aurora; Demurger, Florence; Dowling, James J.; Duban-Bedu, Benedicte; [...]

    Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

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    Elsevier BV, 2019

    Published in: The American Journal of Human Genetics

  5. Blok, Lot Snijders; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H.; Nowak, Catherine B.; Douglas, Jessica; Swoboda, Kathryn J.; Steeves, Marcie A.; Sahai, Inderneel; Stumpel, Connie T. R. M.; Stegmann, Alexander P. A.; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T.; Cohen, Ana S. A.; Agbahovbe, Ruky; Innes, A. Micheil; Au, P. Y. Billie; Rankin, Julia; [...]

    Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

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    Springer Science and Business Media LLC, 2019

    Published in: Nature Communications

  6. Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H.; Nowak, Catherine B.; Douglas, Jessica; Swoboda, Kathryn J.; Steeves, Marcie A.; Sahai, Inderneel; Stumpel, Connie T. R. M.; Stegmann, Alexander P. A.; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T.; Cohen, Ana S. A.; Agbahovbe, Ruky; Innes, A. Micheil; Au, P. Y. Billie; Rankin, Julia; [...]

    Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

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    Springer Science and Business Media LLC, 2019

    Published in: Nature Communications

  7. Snijders Blok, Lot; Rousseau, Justine; Twist, Joanna; Ehresmann, Sophie; Takaku, Motoki; Venselaar, Hanka; Rodan, Lance H.; Nowak, Catherine B.; Douglas, Jessica; Swoboda, Kathryn J.; Steeves, Marcie A.; Sahai, Inderneel; Stumpel, Connie T. R. M.; Stegmann, Alexander P. A.; Wheeler, Patricia; Willing, Marcia; Fiala, Elise; Kochhar, Aaina; Gibson, William T.; Cohen, Ana S. A.; Agbahovbe, Ruky; Innes, A. Micheil; Au, P. Y. Billie; Rankin, Julia; [...]

    CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

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    Springer Science and Business Media LLC, 2018

    Published in: Nature Communications

  8. Faundes, Víctor; Newman, William G.; Bernardini, Laura; Canham, Natalie; Clayton-Smith, Jill; Dallapiccola, Bruno; Davies, Sally J.; Demos, Michelle K.; Goldman, Amy; Gill, Harinder; Horton, Rachel; Kerr, Bronwyn; Kumar, Dhavendra; Lehman, Anna; McKee, Shane; Morton, Jenny; Parker, Michael J.; Rankin, Julia; Robertson, Lisa; Temple, I. Karen; Banka, Siddharth; Adam, Shelin; du Souich, Christèle; Elliott, Alison M.; [...]

    Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

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    Elsevier BV, 2018

    Published in: The American Journal of Human Genetics

  9. Sadleir, Lynette G.; Mountier, Emily I.; Gill, Deepak; Davis, Suzanne; Joshi, Charuta; DeVile, Catherine; Kurian, Manju A.; Mandelstam, Simone; Wirrell, Elaine; Nickels, Katherine C.; Murali, Hema R.; Carvill, Gemma; Myers, Candace T.; Mefford, Heather C.; Scheffer, Ingrid E.; Bevan, A. Paul; Dixit, Abhijit; Pridham, Abigail; Tivey, Adrian R.; Sarkar, Ajoy; Donaldson, Alan; Fryer, Alan; Sifrim, Alejandro; Henderson, Alex; [...]

    Not all SCN1A epileptic encephalopathies are Dravet syndrome : Early profound Thr226Met phenotype : Early profound Thr226Met phenotype

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    Ovid Technologies (Wolters Kluwer Health), 2017

    Published in: Neurology

  10. Gorman, Kathleen M.; Meyer, Esther; Grozeva, Detelina; Spinelli, Egidio; McTague, Amy; Sanchis-Juan, Alba; Carss, Keren J.; Bryant, Emily; Reich, Adi; Schneider, Amy L.; Pressler, Ronit M.; Simpson, Michael A.; Debelle, Geoff D.; Wassmer, Evangeline; Morton, Jenny; Sieciechowicz, Diana; Jan-Kamsteeg, Eric; Paciorkowski, Alex R.; King, Mary D.; Cross, J. Helen; Poduri, Annapurna; Mefford, Heather C.; Scheffer, Ingrid E.; Haack, Tobias B.; [...]

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

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    Elsevier BV, 2019

    Published in: The American Journal of Human Genetics