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CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy
by
Mirzaa, Ghayda M., MD
,
Paciorkowski, Alex R., MD
,
Marsh, Eric D., MD
,
Berry-Kravis, Elizabeth M., MD, PhD
,
Medne, Livija, MS
,
Grix, Art, MD
,
Wirrell, Elaine C., MD
,
Powell, Berkley R., MD
,
Nickels, Katherine C., MD
,
Burton, Barbara, MD
,
Paras, Andrea, MS
,
Kim, Katherine, MS
,
Chung, Wendy, MD
,
Dobyns, William B., MD
,
Das, Soma, PhD
Published in
Pediatric neurology
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Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR Mutations
by
Paznekas, William A.
,
Cunningham, Michael L.
,
Howard, Timothy D.
,
Korf, Bruce R.
,
Lipson, Mark H.
,
Grix, Art W.
,
Feingold, Murray
,
Goldberg, Rosalie
,
Borochowitz, Zvi
,
Aleck, Kirk
,
Mulliken, John
,
Yin, Mingfei
,
Jabs, Ethylin Wang
Published in
American journal of human genetics
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Intermediate hyperhomocysteinemia resulting from compound heterozygosity of methylenetetrahydrofolate reductase mutations
by
SOO-SANG KANG
,
WONG, P. W. K
,
OTTO BOCK, H.-G
,
HORWITZ, A
,
GRIX, A
Published in
American journal of human genetics
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Severe lactic acidosis caused by a novel frame-shift mutation in mitochondrial-encoded cytochrome c oxidase subunit II
by
Wong, Lee-Jun C.
,
Dai, Pu
,
Tan, Duanjun
,
Lipson, Mark
,
Grix, Art
,
Sifry-Platt, Mara
,
Gropman, Andrea
,
Chen, Tian-Jian
Published in
American journal of medical genetics
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Brachydactyly-short stature-hypertension (Bilginturan) syndrome: Report on two families
by
Chitayat, David
,
Grix, Art
,
Balfe, J. Williamson
,
Abramowicz, Jacques S.
,
Garza, Judy
,
Fong, Chin-To
,
Silver, Meredith M.
,
Saller Jr, Devereux N.
,
Bresnick, George H.
,
Giedion, Andres
,
Lachman, Ralph S.
,
Rimoin, David L.
Published in
American journal of medical genetics
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