المؤلفون: Madelyn A. Gillentine (10669950), Tianyun Wang (2884355), Kendra Hoekzema (3312819), Jill Rosenfeld (2633302), Pengfei Liu (136115), Hui Guo (110581), Chang N. Kim (10669953), Bert B. A. De Vries (3862993), Lisenka E. L. M. Vissers (10669956), Magnus Nordenskjold (10669959), Malin Kvarnung (7420955), Anna Lindstrand (764128), Ann Nordgren (507950), Jozef Gecz (9483), Maria Iascone (3597656), Anna Cereda (752371), Agnese Scatigno (10669962), Silvia Maitz (9165902), Ginevra Zanni (538001), Enrico Bertini (156405), Christiane Zweier (478497), Sarah Schuhmann (10329701), Antje Wiesener (390053), Micah Pepper (10669965), Heena Panjwani (10669968), Erin Torti (7532786), Farida Abid (10669971), Irina Anselm (10669974), Siddharth Srivastava (5568749), Paldeep Atwal (3828862), Carlos A. Bacino (10669977), Gifty Bhat (10669980), Katherine Cobian (10669983), Lynne M. Bird (10669986), Jennifer Friedman (742763), Meredith S. Wright (10074366), Bert Callewaert (526777), Florence Petit (4260166), Sophie Mathieu (2883236), Alexandra Afenjar (374554), Celenie K. Christensen (10669989), Kerry M. White (10669992), Orly Elpeleg (324361), Itai Berger (637559), Edward J. Espineli (10669995), Christina Fagerberg (10669998), Charlotte Brasch-Andersen (10670001), Lars Kjærsgaard Hansen (10670004), Timothy Feyma (10670007), Susan Hughes (10670010), Isabelle Thiffault (176805), Bonnie Sullivan (10670013), Shuang Yan (520415), Kory Keller (3501719), Boris Keren (374547), Cyril Mignot (3416648), Frank Kooy (8128431), Marije Meuwissen (10670016), Alice Basinger (10670019), Mary Kukolich (10670022), Meredith Philips (10670025), Lucia Ortega (9696139), Margaret Drummond-Borg (10670028), Mathilde Lauridsen (10670031), Kristina Sorensen (10670034), Anna Lehman (3492815), Elena Lopez-Rangel (6716363), Paul Levy (821275), Davor Lessel (3853060), Timothy Lotze (4268935), Suneeta Madan-Khetarpal (4355359), Jessica Sebastian (10670037), Jodie Vento (10670040), Divya Vats (86570), L. Manace Benman (10670043), Shane Mckee (10670046), Ghayda M. Mirzaa (10670049), Candace Muss (10670052), John Pappas (10329704), Hilde Peeters (3497765), Corrado Romano (196982), Maurizio Elia (8362221), Ornella Galesi (213799), Marleen E. H. Simon (10670055), Koen L. I. van Gassen (10670058), Kara Simpson (10670061), Robert Stratton (10670064), Sabeen Syed (10670067), Julien Thevenon (397340), Irene Valenzuela Palafoll (10670070), Antonio Vitobello (10670073), Marie Bournez (4616302), Laurence Faivre (397333), Kun Xia (9853), Rachel K. Earl (10670076), Tomasz Nowakowski (3477926), Raphael A. Bernier (5016758), Evan E. Eichler (9228147)

مصطلحات موضوعية: Genetics, Neurodevelopmental disorders, hnRNPs, Cortex development, Gene families

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Rare_deleterious_mutations_of_HNRNP_genes_result_in_shared_neurodevelopmental_disorders/14450784

الاتاحة: https://doi.org/10.6084/m9.figshare.14450784.v1

المؤلفون: Madelyn A. Gillentine (10669950), Tianyun Wang (2884355), Kendra Hoekzema (3312819), Jill Rosenfeld (2633302), Pengfei Liu (136115), Hui Guo (110581), Chang N. Kim (10669953), Bert B. A. De Vries (3862993), Lisenka E. L. M. Vissers (10669956), Magnus Nordenskjold (10669959), Malin Kvarnung (7420955), Anna Lindstrand (764128), Ann Nordgren (507950), Jozef Gecz (9483), Maria Iascone (3597656), Anna Cereda (752371), Agnese Scatigno (10669962), Silvia Maitz (9165902), Ginevra Zanni (538001), Enrico Bertini (156405), Christiane Zweier (478497), Sarah Schuhmann (10329701), Antje Wiesener (390053), Micah Pepper (10669965), Heena Panjwani (10669968), Erin Torti (7532786), Farida Abid (10669971), Irina Anselm (10669974), Siddharth Srivastava (5568749), Paldeep Atwal (3828862), Carlos A. Bacino (10669977), Gifty Bhat (10669980), Katherine Cobian (10669983), Lynne M. Bird (10669986), Jennifer Friedman (742763), Meredith S. Wright (10074366), Bert Callewaert (526777), Florence Petit (4260166), Sophie Mathieu (2883236), Alexandra Afenjar (374554), Celenie K. Christensen (10669989), Kerry M. White (10669992), Orly Elpeleg (324361), Itai Berger (637559), Edward J. Espineli (10669995), Christina Fagerberg (10669998), Charlotte Brasch-Andersen (10670001), Lars Kjærsgaard Hansen (10670004), Timothy Feyma (10670007), Susan Hughes (10670010), Isabelle Thiffault (176805), Bonnie Sullivan (10670013), Shuang Yan (520415), Kory Keller (3501719), Boris Keren (374547), Cyril Mignot (3416648), Frank Kooy (8128431), Marije Meuwissen (10670016), Alice Basinger (10670019), Mary Kukolich (10670022), Meredith Philips (10670025), Lucia Ortega (9696139), Margaret Drummond-Borg (10670028), Mathilde Lauridsen (10670031), Kristina Sorensen (10670034), Anna Lehman (3492815), Elena Lopez-Rangel (6716363), Paul Levy (821275), Davor Lessel (3853060), Timothy Lotze (4268935), Suneeta Madan-Khetarpal (4355359), Jessica Sebastian (10670037), Jodie Vento (10670040), Divya Vats (86570), L. Manace Benman (10670043), Shane Mckee (10670046), Ghayda M. Mirzaa (10670049), Candace Muss (10670052), John Pappas (10329704), Hilde Peeters (3497765), Corrado Romano (196982), Maurizio Elia (8362221), Ornella Galesi (213799), Marleen E. H. Simon (10670055), Koen L. I. van Gassen (10670058), Kara Simpson (10670061), Robert Stratton (10670064), Sabeen Syed (10670067), Julien Thevenon (397340), Irene Valenzuela Palafoll (10670070), Antonio Vitobello (10670073), Marie Bournez (4616302), Laurence Faivre (397333), Kun Xia (9853), Rachel K. Earl (10670076), Tomasz Nowakowski (3477926), Raphael A. Bernier (5016758), Evan E. Eichler (9228147)

مصطلحات موضوعية: Genetics, Neurodevelopmental disorders, hnRNPs, Cortex development, Gene families

Relation: https://figshare.com/articles/journal_contribution/Additional_file_3_of_Rare_deleterious_mutations_of_HNRNP_genes_result_in_shared_neurodevelopmental_disorders/14450793

الاتاحة: https://doi.org/10.6084/m9.figshare.14450793.v1

المؤلفون: Bibiche den Hollander (10931322), Anne Rasing (10931325), Merel A. Post (10931328), Willemijn M. Klein (8362860), Machteld M. Oud (2308225), Marion M. Brands (10931331), Lonneke de Boer (10931334), Udo F. H. Engelke (9099551), Peter van Essen (526629), Sabine A. Fuchs (5850101), Charlotte A. Haaxma (10846058), Brynjar O. Jensson (10931337), Leo A. J. Kluijtmans (10931340), Anna Lengyel (8824571), Klaske D. Lichtenbelt (10931343), Elsebet Østergaard (10931346), Gera Peters (10931349), Ramona Salvarinova (6716366), Marleen E. H. Simon (10670055), Kari Stefansson (26484), Ólafur Thorarensen (10931352), Ulrike Ulmen (10931355), Karlien L. M. Coene (10931358), Michèl A. Willemsen (10931361), Dirk J. Lefeber (190780), Clara D. M. van Karnebeek (6035903)

مصطلحات موضوعية: Neurology and Neuromuscular Diseases, Neurogenetics, congenital disorder of glycosylation, glycosylation, sialic acid biosynthesis, N-acetyl-D-neuraminic acid, skeletal dysplasia, metabolic disease, intellectual developmental disorder/IDD, thrombocytopenia

Relation: https://figshare.com/articles/dataset/Data_Sheet_1_NANS-CDG_Delineation_of_the_Genetic_Biochemical_and_Clinical_Spectrum_docx/14742093

الاتاحة: https://doi.org/10.3389/fneur.2021.668640.s001

المؤلفون: Madelyn A. Gillentine (10669950), Tianyun Wang (2884355), Kendra Hoekzema (3312819), Jill Rosenfeld (2633302), Pengfei Liu (136115), Hui Guo (110581), Chang N. Kim (10669953), Bert B. A. De Vries (3862993), Lisenka E. L. M. Vissers (10669956), Magnus Nordenskjold (10669959), Malin Kvarnung (7420955), Anna Lindstrand (764128), Ann Nordgren (507950), Jozef Gecz (9483), Maria Iascone (3597656), Anna Cereda (752371), Agnese Scatigno (10669962), Silvia Maitz (9165902), Ginevra Zanni (538001), Enrico Bertini (156405), Christiane Zweier (478497), Sarah Schuhmann (10329701), Antje Wiesener (390053), Micah Pepper (10669965), Heena Panjwani (10669968), Erin Torti (7532786), Farida Abid (10669971), Irina Anselm (10669974), Siddharth Srivastava (5568749), Paldeep Atwal (3828862), Carlos A. Bacino (10669977), Gifty Bhat (10669980), Katherine Cobian (10669983), Lynne M. Bird (10669986), Jennifer Friedman (742763), Meredith S. Wright (10074366), Bert Callewaert (526777), Florence Petit (4260166), Sophie Mathieu (2883236), Alexandra Afenjar (374554), Celenie K. Christensen (10669989), Kerry M. White (10669992), Orly Elpeleg (324361), Itai Berger (637559), Edward J. Espineli (10669995), Christina Fagerberg (10669998), Charlotte Brasch-Andersen (10670001), Lars Kjærsgaard Hansen (10670004), Timothy Feyma (10670007), Susan Hughes (10670010), Isabelle Thiffault (176805), Bonnie Sullivan (10670013), Shuang Yan (520415), Kory Keller (3501719), Boris Keren (374547), Cyril Mignot (3416648), Frank Kooy (8128431), Marije Meuwissen (10670016), Alice Basinger (10670019), Mary Kukolich (10670022), Meredith Philips (10670025), Lucia Ortega (9696139), Margaret Drummond-Borg (10670028), Mathilde Lauridsen (10670031), Kristina Sorensen (10670034), Anna Lehman (3492815), Elena Lopez-Rangel (6716363), Paul Levy (821275), Davor Lessel (3853060), Timothy Lotze (4268935), Suneeta Madan-Khetarpal (4355359), Jessica Sebastian (10670037), Jodie Vento (10670040), Divya Vats (86570), L. Manace Benman (10670043), Shane Mckee (10670046), Ghayda M. Mirzaa (10670049), Candace Muss (10670052), John Pappas (10329704), Hilde Peeters (3497765), Corrado Romano (196982), Maurizio Elia (8362221), Ornella Galesi (213799), Marleen E. H. Simon (10670055), Koen L. I. van Gassen (10670058), Kara Simpson (10670061), Robert Stratton (10670064), Sabeen Syed (10670067), Julien Thevenon (397340), Irene Valenzuela Palafoll (10670070), Antonio Vitobello (10670073), Marie Bournez (4616302), Laurence Faivre (397333), Kun Xia (9853), Rachel K. Earl (10670076), Tomasz Nowakowski (3477926), Raphael A. Bernier (5016758), Evan E. Eichler (9228147)

مصطلحات موضوعية: Genetics, Neurodevelopmental disorders, hnRNPs, Cortex development, Gene families

Relation: https://figshare.com/articles/dataset/Additional_file_1_of_Rare_deleterious_mutations_of_HNRNP_genes_result_in_shared_neurodevelopmental_disorders/14450781

الاتاحة: https://doi.org/10.6084/m9.figshare.14450781.v1