Results
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61.
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None [electronic resource] by
- Johnston, Jennifer J
- Williamson, Kathleen A
- Chou, Christopher M
- Sapp, Julie C
- Ansari, Morad
- Chapman, Heather M
- Cooper, David N
- Dabir, Tabib
- Dudley, Jeffrey N
- Holt, Richard J
- Ragge, Nicola K
- Schäffer, Alejandro A
- Sen, Shurjo K
- Slavotinek, Anne M
- FitzPatrick, David R
- Glaser, Thomas M
- Stewart, Fiona
- Black, Graeme Cm
- Biesecker, Leslie G
Producer: 20200603
In:
Journal of medical genetics vol. 56
Availability: No items available.
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62.
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Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. [electronic resource] by
- Slavotinek, Anne M
- Baranzini, Sergio E
- Schanze, Denny
- Labelle-Dumais, Cassandre
- Short, Kieran M
- Chao, Ryan
- Yahyavi, Mani
- Bijlsma, Emilia K
- Chu, Catherine
- Musone, Stacey
- Wheatley, Ashleigh
- Kwok, Pui-Yan
- Marles, Sandra
- Fryns, Jean-Pierre
- Maga, A Murat
- Hassan, Mohamed G
- Gould, Douglas B
- Madireddy, Lohith
- Li, Chumei
- Cox, Timothy C
- Smyth, Ian
- Chudley, Albert E
- Zenker, Martin
Producer: 20110926
In:
Journal of medical genetics vol. 48
Availability: No items available.
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63.
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Evidence-based assessments of clinical actionability in the context of secondary findings: Updates from ClinGen's Actionability Working Group. [electronic resource] by
- Webber, Elizabeth M
- Hunter, Jessica Ezzell
- Biesecker, Leslie G
- Buchanan, Adam H
- Clarke, Elizabeth V
- Currey, Erin
- Dagan-Rosenfeld, Orit
- Lee, Kristy
- Lindor, Noralane M
- Martin, Christa Lese
- Milosavljevic, Aleksandar
- Mittendorf, Kathleen F
- Muessig, Kristin R
- O'Daniel, Julianne M
- Patel, Ronak Y
- Ramos, Erin M
- Rego, Shannon
- Slavotinek, Anne M
- Sobriera, Nara Lygia M
- Weaver, Meredith A
- Williams, Marc S
- Evans, James P
- Goddard, Katrina A B
Producer: 20190820
In:
Human mutation vol. 39
Availability: No items available.
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64.
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. [electronic resource] by
- Kanca, Oguz
- Andrews, Jonathan C
- Lee, Pei-Tseng
- Patel, Chirag
- Braddock, Stephen R
- Slavotinek, Anne M
- Cohen, Julie S
- Gubbels, Cynthia S
- Aldinger, Kimberly A
- Williams, Judy
- Indaram, Maanasa
- Fatemi, Ali
- Yu, Timothy W
- Agrawal, Pankaj B
- Vezina, Gilbert
- Simons, Cas
- Crawford, Joanna
- Lau, C Christopher
- Chung, Wendy K
- Markello, Thomas C
- Dobyns, William B
- Adams, David R
- Gahl, William A
- Wangler, Michael F
- Yamamoto, Shinya
- Bellen, Hugo J
- Malicdan, May Christine V
Publication details: American journal of human genetics Sep 2019
In:
American journal of human genetics vol. 105
Availability: No items available.
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65.
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Further clinical and molecular delineation of the 15q24 microdeletion syndrome. [electronic resource] by
- Mefford, Heather C
- Rosenfeld, Jill A
- Shur, Natasha
- Slavotinek, Anne M
- Cox, Victoria A
- Hennekam, Raoul C
- Firth, Helen V
- Willatt, Lionel
- Wheeler, Patricia
- Morrow, Eric M
- Cook, Joseph
- Sullivan, Rachel
- Oh, Albert
- McDonald, Marie T
- Zonana, Jonathan
- Keller, Kory
- Hannibal, Mark C
- Ball, Susie
- Kussmann, Jennifer
- Gorski, Jerome
- Zelewski, Susan
- Banks, Valerie
- Smith, Wendy
- Smith, Rosemarie
- Paull, Lindsay
- Rosenbaum, Kenneth N
- Amor, David J
- Silva, Joao
- Lamb, Allen
- Eichler, Evan E
Producer: 20120511
In:
Journal of medical genetics vol. 49
Availability: No items available.
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66.
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The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research. [electronic resource] by
- Horowitz, Carol R
- Orlando, Lori A
- Slavotinek, Anne M
- Peterson, Josh
- Angelo, Frank
- Biesecker, Barbara
- Bonham, Vence L
- Cameron, Linda D
- Fullerton, Stephanie M
- Gelb, Bruce D
- Goddard, Katrina A B
- Hailu, Benyam
- Hart, Ragan
- Hindorff, Lucia A
- Jarvik, Gail P
- Kaufman, Dave
- Kenny, Eimear E
- Knight, Sara J
- Koenig, Barbara A
- Korf, Bruce R
- Madden, Ebony
- McGuire, Amy L
- Ou, Jeffrey
- Wasserstein, Melissa P
- Robinson, Mimsie
- Leventhal, Howard
- Sanderson, Saskia C
Producer: 20200311
In:
American journal of human genetics vol. 104
Availability: No items available.
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67.
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. [electronic resource] by
- Kanca, Oguz
- Andrews, Jonathan C
- Lee, Pei-Tseng
- Patel, Chirag
- Braddock, Stephen R
- Slavotinek, Anne M
- Cohen, Julie S
- Gubbels, Cynthia S
- Aldinger, Kimberly A
- Williams, Judy
- Indaram, Maanasa
- Fatemi, Ali
- Yu, Timothy W
- Agrawal, Pankaj B
- Vezina, Gilbert
- Simons, Cas
- Crawford, Joanna
- Lau, C Christopher
- Chung, Wendy K
- Markello, Thomas C
- Dobyns, William B
- Adams, David R
- Gahl, William A
- Wangler, Michael F
- Yamamoto, Shinya
- Bellen, Hugo J
- Malicdan, May Christine V
Producer: 20200316
In:
American journal of human genetics vol. 105
Availability: No items available.
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68.
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The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations. [electronic resource] by
- Amendola, Laura M
- Berg, Jonathan S
- Horowitz, Carol R
- Angelo, Frank
- Bensen, Jeannette T
- Biesecker, Barbara B
- Biesecker, Leslie G
- Cooper, Gregory M
- East, Kelly
- Filipski, Kelly
- Fullerton, Stephanie M
- Gelb, Bruce D
- Goddard, Katrina A B
- Hailu, Benyam
- Hart, Ragan
- Hassmiller-Lich, Kristen
- Joseph, Galen
- Kenny, Eimear E
- Koenig, Barbara A
- Knight, Sara
- Kwok, Pui-Yan
- Lewis, Katie L
- McGuire, Amy L
- Norton, Mary E
- Ou, Jeffrey
- Parsons, Donald W
- Powell, Bradford C
- Risch, Neil
- Robinson, Mimsie
- Rini, Christine
- Scollon, Sarah
- Slavotinek, Anne M
- Veenstra, David L
- Wasserstein, Melissa P
- Wilfond, Benjamin S
- Hindorff, Lucia A
- Plon, Sharon E
- Jarvik, Gail P
Producer: 20190514
In:
American journal of human genetics vol. 103
Availability: No items available.
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69.
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Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. [electronic resource] by
- 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
Producer: 20190228
In:
American journal of medical genetics. Part A vol. 176
Availability: No items available.
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