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1
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome 미리보기

학술저널

issue
American Journal of Medical Genetics Part A. 185(6)
Author
Sheppard, Sarah E
Campbell, Ian M
Harr, Margaret H
Gold, Nina
Li, Dong
Bjornsson, Hans T
Cohen, Julie S
Fahrner, Jill A
Fatemi, Ali
Harris, Jacqueline R
Nowak, Catherine
Stevens, Cathy A
Grand, Katheryn
Au, Margaret
Graham, John M
Sanchez‐Lara, Pedro A
Del Campo, Miguel
Jones, Marilyn C
Abdul‐Rahman, Omar
Alkuraya, Fowzan S
Bassetti, Jennifer A
Bergstrom, Katherine
Bhoj, Elizabeth
Dugan, Sarah
Kaplan, Julie D
Derar, Nada
Gripp, Karen W
Hauser, Natalie
Innes, A Micheil
Keena, Beth
Kodra, Neslida
Miller, Rebecca
Nelson, Beverly
Nowaczyk, Malgorzata J
Rahbeeni, Zuhair
Ben‐Shachar, Shay
Shieh, Joseph T
Slavotinek, Anne
Sobering, Andrew K
Abbott, Mary‐Alice
Allain, Dawn C
Amlie‐Wolf, Louise
Au, Ping Yee Billie
Bedoukian, Emma
Beek, Geoffrey
Barry, James
Berg, Janet
Bernstein, Jonathan A
Cytrynbaum, Cheryl
Chung, Brian Hon‐Yin
Donoghue, Sarah
Dorrani, Naghmeh
Eaton, Alison
Flores‐Daboub, Josue A
Dubbs, Holly
Felix, Carolyn A
Fong, Chin‐To
Fung, Jasmine Lee Fong
Gangaram, Balram
Goldstein, Amy
Greenberg, Rotem
Ha, Thoa K
Hersh, Joseph
Izumi, Kosuke
Kallish, Staci
Kravets, Elijah
Kwok, Pui‐Yan
Jobling, Rebekah K
Johnson, Amy E Knight
Kushner, Jessica
Lee, Bo Hoon
Levin, Brooke
Lindstrom, Kristin
Manickam, Kandamurugu
Mardach, Rebecca
McCormick, Elizabeth
McLeod, D Ross
Mentch, Frank D
Minks, Kelly
Muraresku, Colleen
Nelson, Stanley F
Porazzi, Patrizia
Pichurin, Pavel N
Powell‐Hamilton, Nina N
Powis, Zoe
Ritter, Alyssa
Rogers, Caleb
Rohena, Luis
Ronspies, Carey
Schroeder, Audrey
Stark, Zornitza
Starr, Lois
Stoler, Joan
Suwannarat, Pim
Velinov, Milen
Weksberg, Rosanna
Wilnai, Yael
Zadeh, Neda
Zand, Dina J
Falk, Marni J
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship) 
2
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. 미리보기

학술저널

issue
Science advances. 6(49)
Author
Bryant, Laura
Li, Dong
Cox, Samuel G
Marchione, Dylan
Joiner, Evan F
Wilson, Khadija
Janssen, Kevin
Lee, Pearl
March, Michael E
Nair, Divya
Sherr, Elliott
Fregeau, Brieana
Wierenga, Klaas J
Wadley, Alexandrea
Mancini, Grazia MS
Powell-Hamilton, Nina
van de Kamp, Jiddeke
Grebe, Theresa
Dean, John
Ross, Alison
Crawford, Heather P
Powis, Zoe
Cho, Megan T
Willing, Marcia C
Manwaring, Linda
Schot, Rachel
Nava, Caroline
Afenjar, Alexandra
Lessel, Davor
Wagner, Matias
Klopstock, Thomas
Winkelmann, Juliane
Catarino, Claudia B
Retterer, Kyle
Schuette, Jane L
Innis, Jeffrey W
Pizzino, Amy
Lüttgen, Sabine
Denecke, Jonas
Strom, Tim M
Monaghan, Kristin G
DDD Study
Yuan, Zuo-Fei
Dubbs, Holly
Bend, Renee
Lee, Jennifer A
Lyons, Michael J
Hoefele, Julia
Günthner, Roman
Reutter, Heiko
Keren, Boris
Radtke, Kelly
Sherbini, Omar
Mrokse, Cameron
Helbig, Katherine L
Odent, Sylvie
Cogne, Benjamin
Mercier, Sandra
Bezieau, Stephane
Besnard, Thomas
Kury, Sebastien
Redon, Richard
Reinson, Karit
Wojcik, Monica H
Õunap, Katrin
Ilves, Pilvi
Innes, A Micheil
Kernohan, Kristin D
Care4Rare Canada Consortium
Costain, Gregory
Meyn, M Stephen
Chitayat, David
Zackai, Elaine
Lehman, Anna
Kitson, Hilary
CAUSES Study
Martin, Martin G
Martinez-Agosto, Julian A
Undiagnosed Diseases Network
Nelson, Stan F
Palmer, Christina GS
Papp, Jeanette C
Parker, Neil H
Sinsheimer, Janet S
Vilain, Eric
Wan, Jijun
Yoon, Amanda J
Zheng, Allison
Brimble, Elise
Ferrero, Giovanni Battista
Radio, Francesca Clementina
Carli, Diana
Barresi, Sabina
Brusco, Alfredo
Tartaglia, Marco
Thomas, Jennifer Muncy
Umana, Luis
Weiss, Marjan M
Gotway, Garrett
Stuurman, KE
DB Label
Database : eScholarship
원문보기
Open Access (eScholarship) 
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