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Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice. [electronic resource] by
- Muir, Alison M
- Ren, Yinshi
- Butz, Delana Hopkins
- Davis, Nicholas A
- Blank, Robert D
- Birk, David E
- Lee, Se-Jin
- Rowe, David
- Feng, Jian Q
- Greenspan, Daniel S
Producer: 20150112
In:
Human molecular genetics vol. 23
Availability: No items available.
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6.
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Parental Mosaicism in "De Novo" Epileptic Encephalopathies. [electronic resource] by
- Myers, Candace T
- Hollingsworth, Georgina
- Muir, Alison M
- Schneider, Amy L
- Thuesmunn, Zoe
- Knupp, Allison
- King, Chontelle
- Lacroix, Amy
- Mehaffey, Michele G
- Berkovic, Samuel F
- Carvill, Gemma L
- Sadleir, Lynette G
- Scheffer, Ingrid E
- Mefford, Heather C
Producer: 20180509
In:
The New England journal of medicine vol. 378
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7.
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Genetic heterogeneity in infantile spasms. [electronic resource] by
- Muir, Alison M
- Myers, Candace T
- Nguyen, Nancy T
- Saykally, Julia
- Craiu, Dana
- De Jonghe, Peter
- Helbig, Ingo
- Hoffman-Zacharska, Dorota
- Guerrini, Renzo
- Lehesjoki, Anna-Elina
- Marini, Carla
- Møller, Rikke S
- Serratosa, Jose
- Štěrbová, Katalin
- Striano, Pasquale
- von Spiczak, Sarah
- Weckhuysen, Sarah
- Mefford, Heather C
Producer: 20200722
In:
Epilepsy research vol. 156
Availability: No items available.
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8.
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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. [electronic resource] by
- Muir, Alison M
- Cohen, Jennifer L
- Sheppard, Sarah E
- Guttipatti, Pavithran
- Lo, Tsz Y
- Weed, Natalie
- Doherty, Dan
- DeMarzo, Danielle
- Fagerberg, Christina R
- Kjærsgaard, Lars
- Larsen, Martin J
- Rump, Patrick
- Löhner, Katharina
- Hirsch, Yoel
- Zeevi, David A
- Zackai, Elaine H
- Bhoj, Elizabeth
- Song, Yuanquan
- Mefford, Heather C
Producer: 20200727
In:
American journal of human genetics vol. 106
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9.
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Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. [electronic resource] by
- Dines, Jennifer N
- Golden-Grant, Katie
- LaCroix, Amy
- Muir, Alison M
- Cintrón, Dianne Laboy
- McWalter, Kirsty
- Cho, Megan T
- Sun, Angela
- Merritt, J Lawrence
- Thies, Jenny
- Niyazov, Dmitriy
- Burton, Barbara
- Kim, Katherine
- Fleming, Leah
- Westman, Rachel
- Karachunski, Peter
- Dalton, Joline
- Basinger, Alice
- Ficicioglu, Can
- Helbig, Ingo
- Pendziwiat, Manuela
- Muhle, Hiltrud
- Helbig, Katherine L
- Caliebe, Almuth
- Santer, René
- Becker, Kolja
- Suchy, Sharon
- Douglas, Ganka
- Millan, Francisca
- Begtrup, Amber
- Monaghan, Kristin G
- Mefford, Heather C
Publication details: Genetics in medicine : official journal of the American College of Medical Genetics Aug 2019
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
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10.
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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants. [electronic resource] by
- Dines, Jennifer N
- Golden-Grant, Katie
- LaCroix, Amy
- Muir, Alison M
- Cintrón, Dianne Laboy
- McWalter, Kirsty
- Cho, Megan T
- Sun, Angela
- Merritt, J Lawrence
- Thies, Jenny
- Niyazov, Dmitriy
- Burton, Barbara
- Kim, Katherine
- Fleming, Leah
- Westman, Rachel
- Karachunski, Peter
- Dalton, Joline
- Basinger, Alice
- Ficicioglu, Can
- Helbig, Ingo
- Pendziwiat, Manuela
- Muhle, Hiltrud
- Helbig, Katherine L
- Caliebe, Almuth
- Santer, René
- Becker, Kolja
- Suchy, Sharon
- Douglas, Ganka
- Millan, Francisca
- Begtrup, Amber
- Monaghan, Kristin G
- Mefford, Heather C
Producer: 20190715
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 21
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11.
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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. [electronic resource] by
- Tsai, Meng-Han
- Muir, Alison M
- Wang, Won-Jing
- Kang, Yi-Ning
- Yang, Kun-Chuan
- Chao, Nian-Hsin
- Wu, Mei-Feng
- Chang, Ying-Chao
- Porter, Brenda E
- Jansen, Laura A
- Sebire, Guillaume
- Deconinck, Nicolas
- Fan, Wen-Lang
- Su, Shih-Chi
- Chung, Wen-Hung
- Almanza Fuerte, Edith P
- Mehaffey, Michele G
- Ng, Ching-Ching
- Chan, Chung-Kin
- Lim, Kheng-Seang
- Leventer, Richard J
- Lockhart, Paul J
- Riney, Kate
- Damiano, John A
- Hildebrand, Michael S
- Mirzaa, Ghayda M
- Dobyns, William B
- Berkovic, Samuel F
- Scheffer, Ingrid E
- Tsai, Jin-Wu
- Mefford, Heather C
Producer: 20200811
In:
Neuron vol. 106
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12.
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De novo mutations in GRIN1 cause extensive bilateral polymicrogyria. [electronic resource] by
- Fry, Andrew E
- Fawcett, Katherine A
- Zelnik, Nathanel
- Yuan, Hongjie
- Thompson, Belinda A N
- Shemer-Meiri, Lilach
- Cushion, Thomas D
- Mugalaasi, Hood
- Sims, David
- Stoodley, Neil
- Chung, Seo-Kyung
- Rees, Mark I
- Patel, Chirag V
- Brueton, Louise A
- Layet, Valérie
- Giuliano, Fabienne
- Kerr, Michael P
- Banne, Ehud
- Meiner, Vardiella
- Lerman-Sagie, Tally
- Helbig, Katherine L
- Kofman, Laura H
- Knight, Kristin M
- Chen, Wenjuan
- Kannan, Varun
- Hu, Chun
- Kusumoto, Hirofumi
- Zhang, Jin
- Swanger, Sharon A
- Shaulsky, Gil H
- Mirzaa, Ghayda M
- Muir, Alison M
- Mefford, Heather C
- Dobyns, William B
- Mackenzie, Amanda B
- Mullins, Jonathan G L
- Lemke, Johannes R
- Bahi-Buisson, Nadia
- Traynelis, Stephen F
- Iago, Heledd F
- Pilz, Daniela T
Producer: 20190627
In:
Brain : a journal of neurology vol. 141
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13.
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. [electronic resource] by
- Carapito, Raphael
- Ivanova, Ekaterina L
- Morlon, Aurore
- Meng, Linyan
- Molitor, Anne
- Erdmann, Eva
- Kieffer, Bruno
- Pichot, Angélique
- Naegely, Lydie
- Kolmer, Aline
- Paul, Nicodème
- Hanauer, Antoine
- Tran Mau-Them, Frédéric
- Jean-Marçais, Nolwenn
- Hiatt, Susan M
- Cooper, Gregory M
- Tvrdik, Tatiana
- Muir, Alison M
- Dimartino, Clémantine
- Chopra, Maya
- Amiel, Jeanne
- Gordon, Christopher T
- Dutreux, Fabien
- Garde, Aurore
- Thauvin-Robinet, Christel
- Wang, Xia
- Leduc, Magalie S
- Phillips, Meredith
- Crawford, Heather P
- Kukolich, Mary K
- Hunt, David
- Harrison, Victoria
- Kharbanda, Mira
- Smigiel, Robert
- Gold, Nina
- Hung, Christina Y
- Viskochil, David H
- Dugan, Sarah L
- Bayrak-Toydemir, Pinar
- Joly-Helas, Géraldine
- Guerrot, Anne-Marie
- Schluth-Bolard, Caroline
- Rio, Marlène
- Wentzensen, Ingrid M
- McWalter, Kirsty
- Schnur, Rhonda E
- Lewis, Andrea M
- Lalani, Seema R
- Mensah-Bonsu, Noël
- Céraline, Jocelyn
- Sun, Zijie
- Ploski, Rafal
- Bacino, Carlos A
- Mefford, Heather C
- Faivre, Laurence
- Bodamer, Olaf
- Chelly, Jamel
- Isidor, Bertrand
- Bahram, Seiamak
Publication details: American journal of human genetics Jan 2020
In:
American journal of human genetics vol. 106
Availability: No items available.
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14.
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. [electronic resource] by
- Carapito, Raphael
- Ivanova, Ekaterina L
- Morlon, Aurore
- Meng, Linyan
- Molitor, Anne
- Erdmann, Eva
- Kieffer, Bruno
- Pichot, Angélique
- Naegely, Lydie
- Kolmer, Aline
- Paul, Nicodème
- Hanauer, Antoine
- Tran Mau-Them, Frédéric
- Jean-Marçais, Nolwenn
- Hiatt, Susan M
- Cooper, Gregory M
- Tvrdik, Tatiana
- Muir, Alison M
- Dimartino, Clémantine
- Chopra, Maya
- Amiel, Jeanne
- Gordon, Christopher T
- Dutreux, Fabien
- Garde, Aurore
- Thauvin-Robinet, Christel
- Wang, Xia
- Leduc, Magalie S
- Phillips, Meredith
- Crawford, Heather P
- Kukolich, Mary K
- Hunt, David
- Harrison, Victoria
- Kharbanda, Mira
- Smigiel, Robert
- Gold, Nina
- Hung, Christina Y
- Viskochil, David H
- Dugan, Sarah L
- Bayrak-Toydemir, Pinar
- Joly-Helas, Géraldine
- Guerrot, Anne-Marie
- Schluth-Bolard, Caroline
- Rio, Marlène
- Wentzensen, Ingrid M
- McWalter, Kirsty
- Schnur, Rhonda E
- Lewis, Andrea M
- Lalani, Seema R
- Mensah-Bonsu, Noël
- Céraline, Jocelyn
- Sun, Zijie
- Ploski, Rafal
- Bacino, Carlos A
- Mefford, Heather C
- Faivre, Laurence
- Bodamer, Olaf
- Chelly, Jamel
- Isidor, Bertrand
- Bahram, Seiamak
Producer: 20191119
In:
American journal of human genetics vol. 104
Availability: No items available.
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15.
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. [electronic resource] by
- Guo, Hui
- Bettella, Elisa
- Marcogliese, Paul C
- Zhao, Rongjuan
- Andrews, Jonathan C
- Nowakowski, Tomasz J
- Gillentine, Madelyn A
- Hoekzema, Kendra
- Wang, Tianyun
- Wu, Huidan
- Jangam, Sharayu
- Liu, Cenying
- Ni, Hailun
- Willemsen, Marjolein H
- van Bon, Bregje W
- Rinne, Tuula
- Stevens, Servi J C
- Kleefstra, Tjitske
- Brunner, Han G
- Yntema, Helger G
- Long, Min
- Zhao, Wenjing
- Hu, Zhengmao
- Colson, Cindy
- Richard, Nicolas
- Schwartz, Charles E
- Romano, Corrado
- Castiglia, Lucia
- Bottitta, Maria
- Dhar, Shweta U
- Erwin, Deanna J
- Emrick, Lisa
- Keren, Boris
- Afenjar, Alexandra
- Zhu, Baosheng
- Bai, Bing
- Stankiewicz, Pawel
- Herman, Kristin
- Mercimek-Andrews, Saadet
- Juusola, Jane
- Wilfert, Amy B
- Abou Jamra, Rami
- Büttner, Benjamin
- Mefford, Heather C
- Muir, Alison M
- Scheffer, Ingrid E
- Regan, Brigid M
- Malone, Stephen
- Gecz, Jozef
- Cobben, Jan
- Weiss, Marjan M
- Waisfisz, Quinten
- Bijlsma, Emilia K
- Hoffer, Mariëtte J V
- Ruivenkamp, Claudia A L
- Sartori, Stefano
- Xia, Fan
- Rosenfeld, Jill A
- Bernier, Raphael A
- Wangler, Michael F
- Yamamoto, Shinya
- Xia, Kun
- Stegmann, Alexander P A
- Bellen, Hugo J
- Murgia, Alessandra
- Eichler, Evan E
Producer: 20200114
In:
Nature communications vol. 10
Availability: No items available.
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16.
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None [electronic resource] by
- Platzer, Konrad
- Yuan, Hongjie
- Schütz, Hannah
- Winschel, Alexander
- Chen, Wenjuan
- Hu, Chun
- Kusumoto, Hirofumi
- Heyne, Henrike O
- Helbig, Katherine L
- Tang, Sha
- Willing, Marcia C
- Tinkle, Brad T
- Adams, Darius J
- Depienne, Christel
- Keren, Boris
- Mignot, Cyril
- Frengen, Eirik
- Strømme, Petter
- Biskup, Saskia
- Döcker, Dennis
- Strom, Tim M
- Mefford, Heather C
- Myers, Candace T
- Muir, Alison M
- LaCroix, Amy
- Sadleir, Lynette
- Scheffer, Ingrid E
- Brilstra, Eva
- van Haelst, Mieke M
- van der Smagt, Jasper J
- Bok, Levinus A
- Møller, Rikke S
- Jensen, Uffe B
- Millichap, John J
- Berg, Anne T
- Goldberg, Ethan M
- De Bie, Isabelle
- Fox, Stephanie
- Major, Philippe
- Jones, Julie R
- Zackai, Elaine H
- Abou Jamra, Rami
- Rolfs, Arndt
- Leventer, Richard J
- Lawson, John A
- Roscioli, Tony
- Jansen, Floor E
- Ranza, Emmanuelle
- Korff, Christian M
- Lehesjoki, Anna-Elina
- Courage, Carolina
- Linnankivi, Tarja
- Smith, Douglas R
- Stanley, Christine
- Mintz, Mark
- McKnight, Dianalee
- Decker, Amy
- Tan, Wen-Hann
- Tarnopolsky, Mark A
- Brady, Lauren I
- Wolff, Markus
- Dondit, Lutz
- Pedro, Helio F
- Parisotto, Sarah E
- Jones, Kelly L
- Patel, Anup D
- Franz, David N
- Vanzo, Rena
- Marco, Elysa
- Ranells, Judith D
- Di Donato, Nataliya
- Dobyns, William B
- Laube, Bodo
- Traynelis, Stephen F
- Lemke, Johannes R
Producer: 20180326
In:
Journal of medical genetics vol. 54
Availability: No items available.
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17.
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. [electronic resource] by
- Salpietro, Vincenzo
- Dixon, Christine L
- Guo, Hui
- Bello, Oscar D
- Vandrovcova, Jana
- Efthymiou, Stephanie
- Maroofian, Reza
- Heimer, Gali
- Burglen, Lydie
- Valence, Stephanie
- Torti, Erin
- Hacke, Moritz
- Rankin, Julia
- Tariq, Huma
- Colin, Estelle
- Procaccio, Vincent
- Striano, Pasquale
- Mankad, Kshitij
- Lieb, Andreas
- Chen, Sharon
- Pisani, Laura
- Bettencourt, Conceicao
- Männikkö, Roope
- Manole, Andreea
- Brusco, Alfredo
- Grosso, Enrico
- Ferrero, Giovanni Battista
- Armstrong-Moron, Judith
- Gueden, Sophie
- Bar-Yosef, Omer
- Tzadok, Michal
- Monaghan, Kristin G
- Santiago-Sim, Teresa
- Person, Richard E
- Cho, Megan T
- Willaert, Rebecca
- Yoo, Yongjin
- Chae, Jong-Hee
- Quan, Yingting
- Wu, Huidan
- Wang, Tianyun
- Bernier, Raphael A
- Xia, Kun
- Blesson, Alyssa
- Jain, Mahim
- Motazacker, Mohammad M
- Jaeger, Bregje
- Schneider, Amy L
- Boysen, Katja
- Muir, Alison M
- Myers, Candace T
- Gavrilova, Ralitza H
- Gunderson, Lauren
- Schultz-Rogers, Laura
- Klee, Eric W
- Dyment, David
- Osmond, Matthew
- Parellada, Mara
- Llorente, Cloe
- Gonzalez-Peñas, Javier
- Carracedo, Angel
- Van Haeringen, Arie
- Ruivenkamp, Claudia
- Nava, Caroline
- Heron, Delphine
- Nardello, Rosaria
- Iacomino, Michele
- Minetti, Carlo
- Skabar, Aldo
- Fabretto, Antonella
- Raspall-Chaure, Miquel
- Chez, Michael
- Tsai, Anne
- Fassi, Emily
- Shinawi, Marwan
- Constantino, John N
- De Zorzi, Rita
- Fortuna, Sara
- Kok, Fernando
- Keren, Boris
- Bonneau, Dominique
- Choi, Murim
- Benzeev, Bruria
- Zara, Federico
- Mefford, Heather C
- Scheffer, Ingrid E
- Clayton-Smith, Jill
- Macaya, Alfons
- Rothman, James E
- Eichler, Evan E
- Kullmann, Dimitri M
- Houlden, Henry
Producer: 20191025
In:
Nature communications vol. 10
Availability: No items available.
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