PMC Links for Books (Select 1463494) - PMC

Select item 100819541.

Nosology of genetic skeletal disorders: 2023 revision

Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier-Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew Warman, Andrea Superti-Furga

Am J Med Genet A. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Am J Med Genet A. 2023 May; 191(5): 1164–1209. Published online 2023 Feb 13. doi: 10.1002/ajmg.a.63132

PMCID:: PMC10081954

Abstract Article PDF–894K

Select item 93144842.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 74972893.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 45447534.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 34715275.

Sedlin Controls the ER Export of Procollagen by Regulating the Sar1 Cycle

Rossella Venditti, Tiziana Scanu, Michele Santoro, Giuseppe Di Tullio, Alexander Spaar, Renato Gaibisso, Galina V. Beznoussenko, Alexander A. Mironov, Alexander Mironov, Jr., Leopoldo Zelante, Maria Rosaria Piemontese, Angelo Notarangelo, Vivek Malhotra, Barbara M. Vertel, Cathal Wilson, Maria Antonietta De Matteis

Science. Author manuscript; available in PMC 2013 Mar 28.

Published in final edited form as: Science. 2012 Sep 28; 337(6102): 1668–1672. doi: 10.1126/science.1224947

PMCID:: PMC3471527

Abstract Article PDF–2.1M

Select item 12261266.

A Recurrent RNA-Splicing Mutation in the SEDL Gene Causes X-Linked Spondyloepiphyseal Dysplasia Tarda

George E. Tiller, Vickie L. Hannig, Damon Dozier, Laura Carrel, Karrie C. Trevarthen, William R. Wilcox, Stefan Mundlos, Jonathan L. Haines, Agi K. Gedeon, Jozef Gecz

Am J Hum Genet. 2001 Jun; 68(6): 1398–1407. Published online 2001 Apr 26. doi: 10.1086/320594

PMCID:: PMC1226126

Abstract Article PDF–574K

Select item 12261257.

The Molecular Basis of X-Linked Spondyloepiphyseal Dysplasia Tarda

A. K. Gedeon, G. E. Tiller, M. Le Merrer, S. Heuertz, L. Tranebjaerg, D. Chitayat, S. Robertson, I. A. Glass, R. Savarirayan, W. G. Cole, D. L. Rimoin, B. G. Kousseff, H. Ohashi, B. Zabel, A. Munnich, J. Gecz, J. C. Mulley

Am J Hum Genet. 2001 Jun; 68(6): 1386–1397. Published online 2001 May 8. doi: 10.1086/320592

PMCID:: PMC1226125

Abstract Article PDF–310K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Books

Items: 7

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity