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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. [electronic resource] by
- Olson, Heather E
- Jean-Marçais, Nolwenn
- Yang, Edward
- Heron, Delphine
- Tatton-Brown, Katrina
- van der Zwaag, Paul A
- Bijlsma, Emilia K
- Krock, Bryan L
- Backer, E
- Kamsteeg, Erik-Jan
- Sinnema, Margje
- Reijnders, Margot R F
- Bearden, David
- Begtrup, Amber
- Telegrafi, Aida
- Lunsing, Roelineke J
- Burglen, Lydie
- Lesca, Gaetan
- Cho, Megan T
- Smith, Lacey A
- Sheidley, Beth R
- El Achkar, Christelle Moufawad
- Pearl, Phillip L
- Poduri, Annapurna
- Skraban, Cara M
- Tarpinian, Jennifer
- Nesbitt, Addie I
- Fransen van de Putte, Dietje E
- Ruivenkamp, Claudia A L
- Rump, Patrick
- Chatron, Nicolas
- Sabatier, Isabelle
- De Bellescize, Julitta
- Guibaud, Laurent
- Sweetser, David A
- Waxler, Jessica L
- Wierenga, Klaas J
- Donadieu, Jean
- Narayanan, Vinodh
- Ramsey, Keri M
- Nava, Caroline
- Rivière, Jean-Baptiste
- Vitobello, Antonio
- Mau-Them, Frédéric Tran
- Philippe, Christophe
- Bruel, Ange-Line
- Duffourd, Yannis
- Thomas, Laurel
- Lelieveld, Stefan H
- Schuurs-Hoeijmakers, Janneke
- Brunner, Han G
- Keren, Boris
- Thevenon, Julien
- Faivre, Laurence
- Thomas, Gary
- Thauvin-Robinet, Christel
Publication details: American journal of human genetics 10 2018
In:
American journal of human genetics vol. 103
Availability: No items available.
|
|
94.
|
A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis. [electronic resource] by
- Olson, Heather E
- Jean-Marçais, Nolwenn
- Yang, Edward
- Heron, Delphine
- Tatton-Brown, Katrina
- van der Zwaag, Paul A
- Bijlsma, Emilia K
- Krock, Bryan L
- Backer, E
- Kamsteeg, Erik-Jan
- Sinnema, Margje
- Reijnders, Margot R F
- Bearden, David
- Begtrup, Amber
- Telegrafi, Aida
- Lunsing, Roelineke J
- Burglen, Lydie
- Lesca, Gaetan
- Cho, Megan T
- Smith, Lacey A
- Sheidley, Beth R
- Moufawad El Achkar, Christelle
- Pearl, Phillip L
- Poduri, Annapurna
- Skraban, Cara M
- Tarpinian, Jennifer
- Nesbitt, Addie I
- Fransen van de Putte, Dietje E
- Ruivenkamp, Claudia A L
- Rump, Patrick
- Chatron, Nicolas
- Sabatier, Isabelle
- De Bellescize, Julitta
- Guibaud, Laurent
- Sweetser, David A
- Waxler, Jessica L
- Wierenga, Klaas J
- Donadieu, Jean
- Narayanan, Vinodh
- Ramsey, Keri M
- Nava, Caroline
- Rivière, Jean-Baptiste
- Vitobello, Antonio
- Tran Mau-Them, Frédéric
- Philippe, Christophe
- Bruel, Ange-Line
- Duffourd, Yannis
- Thomas, Laurel
- Lelieveld, Stefan H
- Schuurs-Hoeijmakers, Janneke
- Brunner, Han G
- Keren, Boris
- Thevenon, Julien
- Faivre, Laurence
- Thomas, Gary
- Thauvin-Robinet, Christel
Producer: 20181211
In:
American journal of human genetics vol. 102
Availability: No items available.
|