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Molecular genetics and metabolism, 2023-06, Vol.139 (2), p.107605-107605, Article 107605
2023
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Human mutation, 2008-09, Vol.29 (9), p.E150-E172
- Wong, Lee-Jun C
- Naviaux, Robert K
- Brunetti-Pierri, Nicola
- Zhang, Qing
- Schmitt, Eric S
- Truong, Cavatina
- Milone, Margherita
- Cohen, Bruce H
- Wical, Beverly
- Ganesh, Jaya
- Basinger, Alice A
- Burton, Barbara K
- Swoboda, Kathryn
- Gilbert, Donald L
- Vanderver, Adeline
- Saneto, Russell P
- Maranda, Bruno
- Arnold, Georgianne
- Abdenur, Jose E
- Waters, Paula J
- Copeland, William C
2008
Link zum Volltext
Genetics in medicine, 2023-11, Vol.25 (11), p.100938-100938, Article 100938
- Accogli, Andrea
- Lin, Sheng-Jia
- Severino, Mariasavina
- Kim, Sung-Hoon
- Huang, Kevin
- Rocca, Clarissa
- Landsverk, Megan
- Zaki, Maha
- Al-Maawali, Almundher
- srinivasan, Varunvenkat M.
- Al-Thihli, Khalid
- Schaefer, G. Bradly
- Davis, Monica
- Tonduti, Davide
- Doneda, Chiara
- Marten, Lara M.
- Mühlhausen, Chris
- Gomez, Maria
- Lamantea, Eleonora
- Mena, Rafael
- Nizon, Mathilde
- Procaccio, Vincent
- Begtrup, Amber
- Telegrafi, Aida
- Cui, Hong
- Schulz, Heidi L.
- Mohr, Julia
- Biskup, Saskia
- Loos, Mariana Amina
- Aráoz, Hilda Verónica
- Salpietro, Vincenzo
- Keppen, Laura Davis
- Chitre, Manali
- Petree, Cassidy
- Raymond, Lucy
- Vogt, Julie
- Swayer, Lindsey B.
- Basinger, Alice A.
- Pedersen, Signe Vandal
- Pearson, Toni S.
- Grange, Dorothy K.
- Lingapp, Lokesh
- McDunnah, Paige
- Horvath, Rita
- Cogne, Benjamin
- Isidor, Bertrand
- Hahn, Andreas
- Gripp, Karen
- Jafarnejad, Seyed Mehdi
- Ostergaard, Elsebet
- Prada, Carlos E.
- Ghezzi, Daniele
- Gowda, Vykuntaraju K.
- Taylor, Robert W.
- Sonenberg, Nahum
- Houlden, Henry
- Sissler, Marie
- Varshney, Gaurav K.
- Maroofian, Reza
2023
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American journal of medical genetics. Part A, 2007-06, Vol.143A (12), p.1371-1378
2007
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Clinical chemistry (Baltimore, Md.), 2021-09, Vol.67 (9), p.1290-1292
2021
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Molecular genetics and metabolism, 2006-05, Vol.88 (1), p.90-92
2006
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American journal of human genetics, 2016-05, Vol.98 (5), p.1001-1010
- Petrovski, Slavé
- Küry, Sébastien
- Myers, Candace T.
- Anyane-Yeboa, Kwame
- Cogné, Benjamin
- Bialer, Martin
- Xia, Fan
- Hemati, Parisa
- Riviello, James
- Mehaffey, Michele
- Besnard, Thomas
- Becraft, Emily
- Wadley, Alexandrea
- Politi, Anya Revah
- Colombo, Sophie
- Zhu, Xiaolin
- Ren, Zhong
- Andrews, Ian
- Dudding-Byth, Tracy
- Schneider, Amy L.
- Wallace, Geoffrey
- Rosen, Aaron B.I.
- Schelley, Susan
- Enns, Gregory M.
- Corre, Pierre
- Dalton, Joline
- Mercier, Sandra
- Latypova, Xénia
- Schmitt, Sébastien
- Guzman, Edwin
- Moore, Christine
- Bier, Louise
- Heinzen, Erin L.
- Karachunski, Peter
- Shur, Natasha
- Grebe, Theresa
- Basinger, Alice
- Nguyen, Joanne M.
- Bézieau, Stéphane
- Wierenga, Klaas
- Bernstein, Jonathan A.
- Scheffer, Ingrid E.
- Rosenfeld, Jill A.
- Mefford, Heather C.
- Isidor, Bertrand
- Goldstein, David B.
2016
Link zum Volltext
Natural history and genotype‐phenotype correlations in 72 individuals with SATB2‐associated syndrome
- Zarate, Yuri A.
- Smith‐Hicks, Constance L.
- Greene, Carol
- Abbott, Mary‐Alice
- Siu, Victoria M.
- Calhoun, Amy R. U. L.
- Pandya, Arti
- Li, Chumei
- Sellars, Elizabeth A.
- Kaylor, Julie
- Bosanko, Katherine
- Kalsner, Louisa
- Basinger, Alice
- Slavotinek, Anne M.
- Perry, Hazel
- Saenz, Margarita
- Szybowska, Marta
- Wilson, Louise C.
- Kumar, Ajith
- Brain, Caroline
- Balasubramanian, Meena
- Dubbs, Holly
- Ortiz‐Gonzalez, Xilma R.
- Zackai, Elaine
- Stein, Quinn
- Powell, Cynthia M.
- Schrier Vergano, Samantha
- Britt, Allison
- Sun, Angela
- Smith, Wendy
- Bebin, E. Martina
- Picker, Jonathan
- Kirby, Amelia
- Pinz, Hailey
- Bombei, Hannah
- Mahida, Sonal
- Cohen, Julie S.
- Fatemi, Ali
- Vernon, Hilary J.
- McClellan, Rebecca
- Fleming, Leah R.
- Knyszek, Brittney
- Steinraths, Michelle
- Velasco Gonzalez, Cruz
- Beck, Anita E.
- Golden‐Grant, Katie L.
- Egense, Alena
- Parikh, Aditi
- Raimondi, Chantalle
- Angle, Brad
- Allen, William
- Schott, Suzanna
- Algrabli, Adi
- Robin, Nathaniel H.
- Ray, Joseph W.
- Everman, David B.
- Gambello, Michael J.
- Chung, Wendy K.
2018
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Genetics in medicine, 2019-03, Vol.21 (3), p.601-607
- 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
2019
Link zum Volltext
Journal of neurophysiology, 2022-07, Vol.128 (1), p.40-61
- Wei, Aguan D
- Wakenight, Paul
- Zwingman, Theresa A
- Bard, Angela M
- Sahai, Nikhil
- Willemsen, Marjolein H
- Schelhaas, Helenius J
- Stegmann, Alexander P A
- Verhoeven, Judith S
- de Man, Stella A
- Wessels, Marja W
- Kleefstra, Tjitske
- Shinde, Deepali N
- Helbig, Katherine L
- Basinger, Alice
- Wagner, Victoria F
- Rodriguez-Buritica, David
- Bryant, Emily
- Millichap, John J
- Millen, Kathleen J
- Dobyns, William B
- Ramirez, Jan-Marino
- Kalume, Franck K
2022
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Human molecular genetics, 2017-12, Vol.26 (24), p.4937-4950
- Peng, Yanyan
- Shinde, Deepali N
- Valencia, C Alexander
- Mo, Jun-Song
- Rosenfeld, Jill
- Truitt Cho, Megan
- Chamberlin, Adam
- Li, Zhuo
- Liu, Jie
- Gui, Baoheng
- Brockhage, Rachel
- Basinger, Alice
- Alvarez-Leon, Brenda
- Heydemann, Peter
- Magoulas, Pilar L
- Lewis, Andrea M
- Scaglia, Fernando
- Gril, Solange
- Chong, Shuk Ching
- Bower, Matthew
- Monaghan, Kristin G
- Willaert, Rebecca
- Plona, Maria-Renee
- Dineen, Rich
- Milan, Francisca
- Hoganson, George
- Powis, Zoe
- Helbig, Katherine L
- Keller-Ramey, Jennifer
- Harris, Belinda
- Anderson, Laura C
- Green, Torrian
- Sukoff Rizzo, Stacey J
- Kaylor, Julie
- Chen, Jiani
- Guan, Min-Xin
- Sellars, Elizabeth
- Sparagana, Steven P
- Gibson, James B
- Reinholdt, Laura G
- Tang, Sha
- Huang, Taosheng
2017
Link zum Volltext
Epilepsia (Copenhagen), 2021-01, Vol.62 (1), p.e13-e21
- Schneider, Amy L.
- Myers, Candace T.
- Muir, Alison M.
- Calvert, Sophie
- Basinger, Alice
- Perry, M. Scott
- Rodan, Lance
- Helbig, Katherine L.
- Chambers, Chelsea
- Gorman, Kathleen M.
- King, Mary D.
- Donkervoort, Sandra
- Soldatos, Ariane
- Bönnemann, Carsten G.
- Spataro, Nino
- Gabau, Elisabeth
- Arellano, Montserrat
- Cappuccio, Gerarda
- Brunetti‐Pierri, Nicola
- Rossignol, Elsa
- Hamdan, Fadi F.
- Michaud, Jacques L.
- Balak, Christopher
- Mefford, Heather C.
- Scheffer, Ingrid E.
2021
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Genetics in medicine, 2019-08, Vol.21 (8), p.1899-1899
- 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
2019
Link zum Volltext
Cold Spring Harbor molecular case studies, 2017-11, Vol.3 (6), p.a002097
- Tanaka, Akemi J
- Cho, Megan T
- Willaert, Rebecca
- Retterer, Kyle
- Zarate, Yuri A
- Bosanko, Katie
- Stefans, Vikki
- Oishi, Kimihiko
- Williamson, Amy
- Wilson, Golder N
- Basinger, Alice
- Barbaro-Dieber, Tina
- Ortega, Lucia
- Sorrentino, Susanna
- Gabriel, Melissa K
- Anderson, Ilse J
- Sacoto, Maria J Guillen
- Schnur, Rhonda E
- Chung, Wendy K
2017
Link zum Volltext
American journal of medical genetics. Part A, 2018-04, Vol.176 (4)
- Zarate, Yuri A.
- Smith‐Hicks, Constance L.
- Greene, Carol
- Abbott, Mary‐Alice
- Siu, Victoria M.
- Calhoun, Amy R. U. L.
- Pandya, Arti
- Li, Chumei
- Sellars, Elizabeth A.
- Kaylor, Julie
- Bosanko, Katherine
- Kalsner, Louisa
- Basinger, Alice
- Slavotinek, Anne M.
- Perry, Hazel
- Saenz, Margarita
- Szybowska, Marta
- Wilson, Louise C.
- Kumar, Ajith
- Brain, Caroline
- Balasubramanian, Meena
- Dubbs, Holly
- Ortiz‐Gonzalez, Xilma R.
- Zackai, Elaine
- Stein, Quinn
- Powell, Cynthia M.
- Schrier Vergano, Samantha
- Britt, Allison
- Sun, Angela
- Smith, Wendy
- Bebin, E. Martina
- Picker, Jonathan
- Kirby, Amelia
- Pinz, Hailey
- Bombei, Hannah
- Mahida, Sonal
- Cohen, Julie S.
- Fatemi, Ali
- Vernon, Hilary J.
- McClellan, Rebecca
- Fleming, Leah R.
- Knyszek, Brittney
- Steinraths, Michelle
- Velasco Gonzalez, Cruz
- Beck, Anita E.
- Golden‐Grant, Katie L.
- Egense, Alena
- Parikh, Aditi
- Raimondi, Chantalle
- Angle, Brad
- Allen, William
- Schott, Suzanna
- Algrabli, Adi
- Robin, Nathaniel H.
- Ray, Joseph W.
- Everman, David B.
- Gambello, Michael J.
- Chung, Wendy K.
2018
Link zum Volltext
American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222
- Abou Jamra, Rami
- Accogli, Andrea
- Amburgey, Kimberly
- Basinger, Alice A.
- Ceulemans, Sophia
- Charles, Perrine
- McRae, Jeremy F.
- Rajan, Diana
- Ambridge, Kirsty
- Jones, Philip
- Jones, Wendy D.
- Ahmed, Munaza
- Anjum, Uruj
- Armstrong, Ruth
- Barnicoat, Angela
- Bennett, Chris
- Blair, Edward
- Blyth, Moira
- Bourdon, Louise
- Brady, Angela
- Burn, John
- Canham, Natalie
- Cilliers, Deirdre
- Clayton-Smith, Jill
- Coates, Andrea
- Cooper, Nicola
- Dabir, Tabib
- Davies, Sally
- Dean, John
- Devlin, Gemma
- Donnai, Dian
- Donnelly, Carina
- Evans, Karenza
- Fendick, Tina
- Goodship, Judith
- Green, Andrew
- Harrison, Lucy
- Holden, Simon
- Jarvis, Joanna
- Johnson, Diana
- Jones, Elizabeth
- Kumar, V. K. Ajith
- Lachlan, Katherine
- Langman, Caroline
- Maye, Una
- McMullan, Dominic J.
- McWilliam, Catherine
- Metcalfe, Kay
- Norman, Andrew
- Ogilvie, Caroline
- Park, Soo-Mi
- Phipps, Julie
- Prescott, Katrina
- Procter, Annie
- Purnell, Hellen
- Ross, Alison
- Sampson, Julian
- Shannon, Nora
- Skitt, Zara
- Stewart, Fiona
- Stewart, Helen
- Swaminathan, Ganesh Jawahar
- Taylor, Cat
- Tein, Mark
- Treacy, Becky
- Vandersteen, Anthony
- Wallwark, Sarah
- Waters, Jonathon
- Weber, Astrid
- Whiteford, Margo
- Widaa, Sara
- Wilcox, Sarah
- Wilkinson, Emily
- Parker, Michael
- FitzPatrick, David R.
- Demurger, Florence
- Eiset, Saga Elise
- Ferrarini, Alessandra
- Haack, Tobias B.
- Hashim, Mona
- Jonasson, Amy R.
- Kok, Fernando
- Marcelis, Carlo L.M.
- McWalter, Kirsty
- Mercimek-Andrews, Saadet
- Person, Richard
- Ramelli, Gian Paolo
- Rauch, Anita
- Sanchez-Valle, Amarilis
- Sattar, Shifteh
- Saunders, Carol
- Steindl, Katharina
- Syrbe, Steffen
- Taylor, Jenny C.
- Trauner, Doris A.
- Vogel, Ida
- Widjaja, Elysa
- Zak, Jaroslav
- Banka, Siddharth
- Rodan, Lance H.
2019
Link zum Volltext
American journal of physiology: endocrinology and metabolism, 2001-03, Vol.280 (3), p.E540-E547
2001
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Journal of pediatric gastroenterology and nutrition, 2009-07, Vol.49 (1), p.126-129
2009
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American journal of physiology: endocrinology and metabolism, 2000-07, Vol.279 (1), p.E50-E59
2000
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American journal of physiology: endocrinology and metabolism, 2000-07, Vol.42 (1), p.E50-E59
2000
Link zum Volltext
American journal of physiology: endocrinology and metabolism, 2001-03, Vol.43 (3), p.E540-E547
2001
Link zum Volltext
Pediatrics in review, 2004-07, Vol.25 (7), p.254
2004
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American Journal of Medical Genetics Part A, 2007, Vol.143A (12), p.1371-1378
2007
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