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Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35).
Published in:
Human Genetics, 2010, v. 127, n. 1, p. 19, doi. 10.1007/s00439-009-0736-4
By:
- Brown, Kerry K.;
- Reiss, Jacob A.;
- Crow, Kate;
- Ferguson, Heather L.;
- Kelly, Chantal;
- Fritzsch, Bernd;
- Morton, Cynthia C.
Publication type:
Article
American College of Medical Genetics Standards and Guidelines for Interpretation and Reporting of Postnatal Constitutional Copy Number Variants.
Published in:
Journal of International Reproductive Health/Family Planning, 2014, v. 33, n. 3, p. 217
By:
- Kearney, Hutton M.;
- Thorland, Erik C.;
- Brown, Kerry K.;
- Quintero-Rivera, Fabiola;
- South, Sarah T.
Publication type:
Article
Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 10, p. 1753, doi. 10.1093/hmg/ddz036
By:
- Currall, Benjamin B;
- Chen, Ming;
- Sallari, Richard C;
- Cotter, Maura;
- Wong, Kristen E;
- Robertson, Nahid G;
- Penney, Kathryn L;
- Lunardi, Andrea;
- Reschke, Markus;
- Hickox, Ann E;
- Yin, Yanbo;
- Wong, Garrett T;
- Fung, Jacqueline;
- Brown, Kerry K;
- Williamson, Robin E;
- Sinnott-Armstrong, Nicholas A;
- Kammin, Tammy;
- Ivanov, Andrew;
- Zepeda-Mendoza, Cinthya J;
- Shen, Jun
Publication type:
Article
X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream of POU3F4.
Published in:
2014
By:
- Anger, Gregory J.;
- Crocker, Susan;
- McKenzie, Kyle;
- Brown, Kerry K.;
- Morton, Cynthia C.;
- Harrison, Karen;
- MacKenzie, Jennifer J.
Publication type:
Journal Article
X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream of POU3F4.
Published in:
American Journal of Audiology, 2014, v. 23, n. 1, p. 1, doi. 10.1044/1059-0889(2013/13-0018)
By:
- Anger, Gregory J.;
- Crocker, Susan;
- McKenzie, Kyle;
- Brown, Kerry K.;
- Morton, Cynthia C.;
- Harrison, Karen;
- MacKenzie, Jennifer J.
Publication type:
Article
De novo mutations in histone-modifying genes in congenital heart disease.
Published in:
Nature, 2013, v. 498, n. 7453, p. 220, doi. 10.1038/nature12141
By:
- Zaidi, Samir;
- Choi, Murim;
- Wakimoto, Hiroko;
- Ma, Lijiang;
- Jiang, Jianming;
- Overton, John D.;
- Romano-Adesman, Angela;
- Bjornson, Robert D.;
- Breitbart, Roger E.;
- Brown, Kerry K.;
- Carriero, Nicholas J.;
- Cheung, Yee Him;
- Deanfield, John;
- DePalma, Steve;
- Fakhro, Khalid A.;
- Glessner, Joseph;
- Hakonarson, Hakon;
- Italia, Michael J.;
- Kaltman, Jonathan R.;
- Kaski, Juan
Publication type:
Article
HOXA 2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss.
Published in:
Human Mutation, 2013, v. 34, n. 10, p. 1347, doi. 10.1002/humu.22367
By:
- Brown, Kerry K.;
- Viana, Lucas M.;
- Helwig, Cecilia C.;
- Artunduaga, Maria A.;
- Quintanilla‐Dieck, Lourdes;
- Jarrin, Patricia;
- Osorno, Gabriel;
- McDonough, Barbara;
- DePalma, Steven R.;
- Eavey, Roland D.;
- Seidman, Jonathan G.;
- Seidman, Christine E.
Publication type:
Article

Found: 7

Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35).

American College of Medical Genetics Standards and Guidelines for Interpretation and Reporting of Postnatal Constitutional Copy Number Variants.

Corrigendum: Loss of LDAH associated with prostate cancer and hearing loss.

X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream of POU3F4.

X-Linked Deafness-2 (DFNX2) Phenotype Associated With a Paracentric Inversion Upstream of POU3F4.

De novo mutations in histone-modifying genes in congenital heart disease.

HOXA 2 Haploinsufficiency in Dominant Bilateral Microtia and Hearing Loss.