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Search Results - MUILENBURG, Ann
Search Results - MUILENBURG, Ann
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MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms
by
Guo, Dong-chuan
,
Gong, Limin
,
Regalado, Ellen S.
,
Santos-Cortez, Regie L.
,
Zhao, Ren
,
Cai, Bo
,
Veeraraghavan, Sudha
,
Prakash, Siddharth K.
,
Johnson, Ralph J.
,
Muilenburg, Ann
,
Willing, Marcia
,
Jondeau, Guillaume
,
Boileau, Catherine
,
Pannu, Hariyadarshi
,
Moran, Rocio
,
Debacker, Julie
,
Bamshad, Michael J.
,
Shendure, Jay
,
Nickerson, Deborah A.
,
Leal, Suzanne M.
,
Raman, C.S.
,
Swindell, Eric C.
,
Milewicz, Dianna M.
Published in
American journal of human genetics
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Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25
by
HASHAM, Sumera N
,
WILLING, Marcia C
,
GUO, Dong-Chuan
,
MUILENBURG, Ann
,
RUMIN HE
,
TRAN, Van T
,
SCHERER, Steven E
,
SHETE, Sanjay S
,
MILEWICZ, Dianna M
Published in
Circulation (New York, N.Y.)
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Clinical insights gained from eight new cases and review of reported cases with Jeune syndrome (asphyxiating thoracic dystrophy)
by
Keppler-Noreuil, Kim M.
,
Adam, Margaret P.
,
Welch, Judy
,
Muilenburg, Ann
,
Willing, Marcia C.
Published in
American journal of medical genetics. Part A
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Mutation in the COCH gene is associated with superior semicircular canal dehiscence
by
Hildebrand, Michael S.
,
Tack, Dylan
,
DeLuca, Adam
,
Hur, In Ae
,
Van Rybroek, Jana M.
,
McMordie, Sarah J.
,
Muilenburg, Ann
,
Hoskinson, David P.
,
Van Camp, Guy
,
Pensak, Myles L.
,
Storper, Ian S.
,
Huygen, Patrick L.M.
,
Casavant, Thomas L.
,
Smith, Richard J.H.
Published in
American journal of medical genetics. Part A
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Nonsyndromic genetic predisposition to aortic dissection: A newly recognized, diagnosable, and preventable occurrence in families
by
Hasham, Sumera N
,
Lewin, Matthew R
,
Tran, Van T
,
Pannu, Hariyadarshi
,
Muilenburg, Ann
,
Willing, Marcia
,
Milewicz, Dianna M
Published in
Annals of emergency medicine
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Paucity of skeletal manifestations in hispanic families with FBN1 mutations
by
Villamizar, Carlos
,
Regalado, Ellen S
,
Fadulu, Van Tran
,
Hasham, Sumera N
,
Gupta, Prateek
,
Willing, Marcia C
,
Kuang, Shao-Qing
,
Guo, Dongchuan
,
Muilenburg, Ann
,
Yee, Richard W
,
Fan, Yuxin
,
Towbin, Jeffrey
,
Coselli, Joseph S
,
LeMaire, Scott A
,
Milewicz, Dianna M
Published in
European journal of medical genetics
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Psychosocial impact of predictive testing for Huntington disease on support persons
by
Williams, Janet K.
,
Schutte, Debra L.
,
Holkup, Patricia A.
,
Evers, Catherine
,
Muilenburg, Ann
Published in
American journal of medical genetics
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Nonsyndromic genetic predisposition to aortic dissection
by
Hasham, Sumera N
,
Lewin, Matthew R
,
Tran, Van T
,
Pannu, Hariyadarshi
,
Muilenburg, Ann
,
Willing, Marcia
,
Milewicz, Dianna M
Published in
Annals of emergency medicine
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Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16
by
Schmidt, Nicole
,
Dyke, Don C Van
,
Keppler‐Noreuil, Kim
,
Muilenburg, Ann
,
Patil, Shivanand
,
Kanis, Adam B
Published in
Developmental medicine and child neurology
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A case of Williams syndrome with a large, visible cytogenetic deletion
by
WU, YUAN-QING
,
NICKERSON, ELIZABETH
,
SHAFFER, LISA G
,
KEPPLER-NOREUIL, KIM
,
MUILENBURG, ANN
Published in
Journal of medical genetics
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Developmental delay and multiple congenital anomalies in a child with a unique combination of partial monosomy 18 and partial trisomy 16
by
Schmidt, Nicole
,
Van Dyke, Don C
,
Keppler-Noreuil, Kim
,
Muilenburg, Ann
,
Patil, Shivanand
,
Kanis, Adam B
Published in
Developmental medicine and child neurology
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