Search the collection

44 results for Hamosh,+Ada

Sort by:

Sort by

Limit results to:

20 per page

44 results for Hamosh,+Ada

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 21
ArticlesPeer ReviewedFull Text
Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report
Author / Creator:Kannan, Suraj ; Bodurtha, Joann N. ; Hamosh, Ada ; Jordan, Christopher
Publisher:Bognor Regis: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2022-08, Vol.10 (8), p.e1947-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 22
ArticlesPeer ReviewedFull Text
Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing
Author / Creator:Ferreira, Pedro G. ; Oti, Martin ; Barann, Matthias ; Wieland, Thomas ; Ezquina, Suzana ; Friedländer, Marc R. ; Rivas, Manuel A. ; Esteve-Codina, Anna ; Rosenstiel, Philip ; Strom, Tim M ; Lappalainen, Tuuli ; Guigó, Roderic ; Sammeth, Michael
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2016-09, Vol.6 (1), p.32406-32406, Article 32406
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 23
ArticlesPeer ReviewedFull Text
The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem
Author / Creator:Forsyth, RaeLynn ; Peretz, Ryan H. ; Dempsey, Angela ; Britton, Jacquelyn ; Kratz, Lisa ; Hamosh, Ada ; Vernon, Hilary ; Batshaw, Mark L. ; Valle, David
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2023-05, Vol.64 (3), p.233-237
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 24
ArticlesPeer ReviewedFull Text
Association of Human Aging with a Functional Variant of Klotho
Author / Creator:Arking, Dan E. ; Krebsova, Alice ; Macek, Milan ; Macek, Milan ; Arking, Albert ; Mian, I. Saira ; Fried, Linda ; Hamosh, Ada ; Dey, Srabani ; McIntosh, Iain ; Dietz, Harry C.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2002-01, Vol.99 (2), p.856-861
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 25
ArticlesPeer ReviewedFull Text
The GA4GH Phenopacket schema defines a computable representation of clinical data
Author / Creator:Jacobsen, Julius O. B. ; Baudis, Michael ; Baynam, Gareth S. ; Beckmann, Jacques S. ; Beltran, Sergi ; Buske, Orion J. ; Callahan, Tiffany J. ; Chute, Christopher G. ; Courtot, Mélanie ; Danis, Daniel ; Elemento, Olivier ; Essenwanger, Andrea ; Freimuth, Robert R. ; Gargano, Michael A. ; Groza, Tudor ; Hamosh, Ada ; Harris, Nomi L. ; Kaliyaperumal, Rajaram ; Lloyd, Kevin C. Kent ; Khalifa, Aly ; Krawitz, Peter M. ; Köhler, Sebastian ; Laraway, Brian J. ; Lehväslaiho, Heikki ; Matalonga, Leslie ; McMurry, Julie A. ; Metke-Jimenez, Alejandro ; Mungall, Christopher J. ; Munoz-Torres, Monica C. ; Ogishima, Soichi ; Papakonstantinou, Anastasios ; Piscia, Davide ; Pontikos, Nikolas ; Queralt-Rosinach, Núria ; Roos, Marco ; Sass, Julian ; Schofield, Paul N. ; Seelow, Dominik ; Siapos, Anastasios ; Smedley, Damian ; Smith, Lindsay D. ; Steinhaus, Robin ; Sundaramurthi, Jagadish Chandrabose ; Swietlik, Emilia M. ; Thun, Sylvia ; Vasilevsky, Nicole A. ; Wagner, Alex H. ; Warner, Jeremy L. ; Weiland, Claus ; Haendel, Melissa A. ; Robinson, Peter N.
Publisher:New York: Nature Publishing Group US
Journal title:Nature biotechnology, 2022-06, Vol.40 (6), p.817-820
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 26
ArticlesPeer ReviewedFull Text
Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education
Author / Creator:Lee-Barber, Jasmine ; Kulo, Violet ; Lehmann, Harold ; Hamosh, Ada ; Bodurtha, Joann
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-02, Vol.21 (2), p.493-497
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 27
ArticlesPeer ReviewedFull Text
Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders
Author / Creator:Enns, Gregory M ; Berry, Susan A ; Berry, Gerard T ; Rhead, William J ; Brusilow, Saul W ; Hamosh, Ada
Publisher:Boston, MA: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2007-05, Vol.356 (22), p.2282-2292
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 28
ArticlesPeer ReviewedFull Text
Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay
Author / Creator:Weiss, Karin ; Wigby, Kristen ; Fannemel, Madeleine ; Henderson, Lindsay B ; Beck, Natalie ; Ghali, Neeti ; Study, D D D ; Anderlid, Britt-Marie ; Lundin, Johanna ; Hamosh, Ada ; Jones, Marilyn C ; Ghedia, Sondhya ; Muenke, Maximilian ; Kruszka, Paul
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-08, Vol.25 (8), p.946-951
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 29
ArticlesPeer ReviewedFull Text
Heritability of Lung Disease Severity in Cystic Fibrosis
Author / Creator:Vanscoy, Lori L ; Blackman, Scott M ; Collaco, Joseph M ; Bowers, Amanda ; Lai, Teresa ; Naughton, Kathleen ; Algire, Marilyn ; McWilliams, Rita ; Beck, Suzanne ; Hoover-Fong, Julie ; Hamosh, Ada ; Cutler, Dave ; Cutting, Garry R
Publisher:New York, NY: Am Thoracic Soc
Journal title:American journal of respiratory and critical care medicine, 2007-05, Vol.175 (10), p.1036-1043
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 30
ArticlesPeer ReviewedFull Text
American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of...
Author / Creator:Kearney, Hutton M. ; South, Sarah T. ; Wolff, Daynna J. ; Lamb, Allen ; Hamosh, Ada ; Rao, Kathleen W.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2011-07, Vol.13 (7), p.676-679
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 31
ArticlesPeer ReviewedFull Text
Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles
Author / Creator:Diehl, Adam C. ; Reader, Lauren ; Hamosh, Ada ; Bodurtha, Joann N.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2015-02, Vol.17 (2), p.158-163
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 32
ArticlesPeer ReviewedFull Text
Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of th...
Author / Creator:Bush, Lynn W ; Beck, Anita E ; Biesecker, Leslie G ; Evans, James P ; Hamosh, Ada ; Holm, Ingrid A ; Martin, Christa L ; Richards, C Sue ; Rehm, Heidi L
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2018-02, Vol.20 (2), p.169-171
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 33
ArticlesPeer ReviewedFull Text
Online Mendelian Inheritance In Man (OMIM)
Author / Creator:Hamosh, Ada ; Scott, Alan F. ; Amberger, Joanna ; Valle, David ; McKusick, Victor A.
Publisher:New York: John Wiley & Sons, Inc
Journal title:Human mutation, 2000-01, Vol.15 (1), p.57-61
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 34
ArticlesPeer ReviewedFull Text
Genomic analysis of partial 21q monosomies with variable phenotypes
Author / Creator:Roberson, Elisha D O ; Wohler, Elizabeth Squibb ; Hoover-Fong, Julie E ; Lisi, Emily ; Stevens, Eric L ; Thomas, George H ; Leonard, Jay ; Hamosh, Ada ; Pevsner, Jonathan
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2011-02, Vol.19 (2), p.235-238
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 35
ArticlesPeer ReviewedFull Text
Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in theCFTR gene
Author / Creator:Macek, Milan ; Mercier, Bernard ; Macková, Alice ; Miller, Patrice Weiner ; Hamosh, Ada ; Férec, Claude ; Cutting, Garry R.
Journal title:Human mutation, 1997, Vol.9 (2), p.136-147
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 36
ArticlesPeer ReviewedFull Text
Mosaic trisomy 13: understanding origin using SNP array
Author / Creator:Jinawath, Natini ; Zambrano, Regina ; Wohler, Elizabeth ; Palmquist, Maria K ; Hoover-Fong, Julie ; Hamosh, Ada ; Batista, Denise A S
Publisher:England: BMJ Publishing Group Ltd
Journal title:Journal of medical genetics, 2011-05, Vol.48 (5), p.323-326
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 37
ArticlesPeer ReviewedFull Text
Amplitude-Integrated Electroencephalography in Newborns with Inborn Errors of Metabolism
Author / Creator:Olischar, Monika ; Shany, Eilon ; Aygün, Canan ; Azzopardi, Denis ; Hunt, Rod W. ; Toet, Mona C. ; Hamosh, Ada ; de Vries, Linda S. ; Hellström-Westas, Lena ; Theda, Christiane
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Neonatology (Basel, Switzerland), 2012-01, Vol.102 (3), p.203-211
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 38
ArticlesPeer ReviewedFull Text
Mosaic trisomy 13: understanding origin using SNP array : Copy-number variation
Author / Creator:JINAWATH, Natini ; ZAMBRANO, Regina ; WOHLER, Elizabeth ; PALMQUIST, Maria K ; HOOVER-FONG, Julie ; HAMOSH, Ada ; BATISTA, Denise A. S
Publisher:London: BMJ Publishing Group
Journal title:Journal of medical genetics, 2011, Vol.48 (5), p.323-326
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 39
ArticlesPeer ReviewedFull Text
Genomic analysis of partial 21p monosomies with variable phenotypes
Author / Creator:ROBERSON, Elisha Do ; SQUIBB WOHLER, Elizabeth ; HOOVER-FONG, Julie E ; LISI, Emily ; STEVENS, Eric L ; THOMAS, George H ; LEONARD, Jay ; HAMOSH, Ada ; PEVSNER, Jonathan
Publisher:Basingstoke: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2011, Vol.19 (2), p.235-238
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 40
ArticlesPeer ReviewedFull Text
Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene
Author / Creator:Dietz, Harry C. ; Cutting, Carry R. ; Pyeritz, Reed E. ; Maslen, Cheryl L. ; Sakai, Lynn Y ; Corson, Glen M ; Puffenberger, Erik G. ; Hamosh, Ada ; Nanthakumar, Elizabeth J. ; Curristin, Sheila M. ; Stetten, Gail ; Meyers, Deborah A. ; Francomano, Clair A.
Publisher:London: Nature Publishing
Journal title:Nature (London), 1991-07, Vol.352 (6333), p.337-339
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 21 to 40 of 44 results

Export record to excel

Export this record

Export record to excel

Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report

Export this record

Export record to excel

Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing

Export this record

Export record to excel

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

Export this record

Export record to excel

Association of Human Aging with a Functional Variant of Klotho

Export this record

Export record to excel

The GA4GH Phenopacket schema defines a computable representation of clinical data

Export this record

Export record to excel

Bioinformatics for medical students: a 5-year experience using OMIM® in medical student education

Export this record

Export record to excel

Survival after Treatment with Phenylacetate and Benzoate for Urea-Cycle Disorders

Export this record

Export record to excel

Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Export this record

Export record to excel

Heritability of Lung Disease Severity in Cystic Fibrosis

Export this record

Export record to excel

American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of...

Export this record

Export record to excel

Horizontal integration of OMIM across the medical school preclinical curriculum for early reinforcement of clinical genetics principles

Export this record

Export record to excel

Professional responsibilities regarding the provision, publication, and dissemination of patient phenotypes in the context of clinical genetic and genomic testing: points to consider—a statement of th...

Export this record

Export record to excel

Online Mendelian Inheritance In Man (OMIM)

Export this record

Export record to excel

Genomic analysis of partial 21q monosomies with variable phenotypes

Export this record

Export record to excel

Sensitivity of the denaturing gradient gel electrophoresis technique in detection of known mutations and novel Asian mutations in theCFTR gene

Export this record

Export record to excel

Mosaic trisomy 13: understanding origin using SNP array

Export this record

Export record to excel

Amplitude-Integrated Electroencephalography in Newborns with Inborn Errors of Metabolism

Export this record

Export record to excel

Mosaic trisomy 13: understanding origin using SNP array : Copy-number variation

Export this record

Export record to excel

Genomic analysis of partial 21p monosomies with variable phenotypes

Export this record

Export record to excel

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

Refine your search