Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: 期刊文獻
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The molecular genetics of holoprosencephalyRoessler, Erich ; Muenke, MaximilianAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2010-02, Vol.154C (1), p.52-61可取得全文 |
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2 |
Material Type: 期刊文獻
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The 2019 US medical genetics workforce: a focus on clinical geneticsJenkins, Brittany D. ; Fischer, Catherine G. ; Polito, Curt A. ; Maiese, Deborah R. ; Keehn, Alisha S. ; Lyon, Megan ; Edick, Mathew J. ; Taylor, Matthew R.G. ; Andersson, Hans C. ; Bodurtha, Joann N. ; Blitzer, Miriam G. ; Muenke, Maximilian ; Watson, Michael S.Genetics in medicine, 2021-08, Vol.23 (8), p.1458-1464 [同儕審閱期刊]可取得全文 |
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3 |
Material Type: 期刊文獻
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Down syndrome in diverse populationsKruszka, Paul ; Porras, Antonio R. ; Sobering, Andrew K. ; Ikolo, Felicia A. ; La Qua, Samantha ; Shotelersuk, Vorasuk ; Chung, Brian H. Y. ; Mok, Gary T. K. ; Uwineza, Annette ; Mutesa, Leon ; Moresco, Angélica ; Obregon, María Gabriela ; Sokunbi, Ogochukwu Jidechukwu ; Kalu, Nnenna ; Joseph, Daniel Akinsanya ; Ikebudu, Desmond ; Ugwu, Christopher Emeka ; Okoromah, Christy A. N. ; Addissie, Yonit A. ; Pardo, Katherine L. ; Brough, J. Joseph ; Lee, Ni‐Chung ; Girisha, Katta M. ; Patil, Siddaramappa Jagdish ; Ng, Ivy S. L. ; Min, Breana Cham Wen ; Jamuar, Saumya S. ; Tibrewal, Shailja ; Wallang, Batriti ; Ganesh, Suma ; Sirisena, Nirmala D. ; Dissanayake, Vajira H. W. ; Paththinige, C. Sampath ; Prabodha, L. B. Lahiru ; Richieri‐Costa, Antonio ; Muthukumarasamy, Premala ; Thong, Meow‐Keong ; Jones, Kelly L. ; Abdul‐Rahman, Omar A. ; Ekure, Ekanem Nsikak ; Adeyemo, Adebowale A. ; Summar, Marshall ; Linguraru, Marius George ; Muenke, MaximilianAmerican journal of medical genetics. Part A, 2017-01, Vol.173 (1), p.42-53 [同儕審閱期刊]可取得全文 |
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4 |
Material Type: 期刊文獻
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Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish modelHong, Sungkook ; Hu, Ping ; Jang, Jae Hee ; Carrington, Blake ; Sood, Raman ; Berger, Seth I. ; Roessler, Erich ; Muenke, MaximilianHuman mutation, 2020-12, Vol.41 (12), p.2155-2166 [同儕審閱期刊]可取得全文 |
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5 |
Material Type: 期刊文獻
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Attention-Deficit/Hyperactivity Disorder and Comorbid Disruptive Behavior Disorders: Evidence of Pleiotropy and New Susceptibility LociJain, Mahim ; Palacio, Luis Guillermo ; Castellanos, F. Xavier ; Palacio, Juan David ; Pineda, David ; Restrepo, Maria I ; Muñoz, Juan F ; Lopera, Francisco ; Wallis, Deeann ; Berg, Kate ; Bailey-Wilson, Joan E ; Arcos-Burgos, Mauricio ; Muenke, MaximilianBiological psychiatry (1969), 2007-06, Vol.61 (12), p.1329-1339 [同儕審閱期刊]可取得全文 |
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6 |
Material Type: 期刊文獻
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Hearing loss in syndromic craniosynostoses: introduction and consideration of mechanismsAgochukwu, Nneamaka B ; Solomon, Benjamin D ; Muenke, MaximilianAmerican journal of audiology, 2014-06, Vol.23 (2), p.135-141 [同儕審閱期刊]可取得全文 |
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7 |
Material Type: 期刊文獻
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Cytogenetics and holoprosencephaly: A chromosomal microarray study of 222 individuals with holoprosencephalyHu, Tommy ; Kruszka, Paul ; Martinez, Ariel F. ; Ming, Jeffrey E. ; Shabason, Emily K. ; Raam, Manu S. ; Shaikh, Tamim H. ; Pineda‐Alvarez, Daniel E. ; Muenke, MaximilianAmerican journal of medical genetics. Part C, Seminars in medical genetics, 2018-06, Vol.178 (2), p.175-186可取得全文 |
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8 |
Material Type: 期刊文獻
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Phenotype profile of a genetic mouse model for Muenke syndromeNah, Hyun-Duck ; Koyama, Eiki ; Agochukwu, Nneamaka B. ; Bartlett, Scott P. ; Muenke, MaximilianChild's nervous system, 2012-09, Vol.28 (9), p.1483-1493 [同儕審閱期刊]可取得全文 |
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9 |
Material Type: 期刊文獻
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Medical genetics and genomic medicine in the United States of America. Part 1: history, demographics, legislation, and burden of diseaseFerreira, Carlos R. ; Regier, Debra S. ; Hadley, Donald W. ; Hart, P. Suzanne ; Muenke, MaximilianMolecular genetics & genomic medicine, 2017-07, Vol.5 (4), p.307-316 [同儕審閱期刊]可取得全文 |
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10 |
Material Type: 期刊文獻
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The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterolEdison, Robin ; Muenke, MaximilianCongenital anomalies, 2003-03, Vol.43 (1), p.1-21 [同儕審閱期刊]可取得全文 |