skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Mostrar Somente
Refinado por: assunto: Life Sciences & Biomedicine remover
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders
Material Type:
Artigo 		Adicionar ao Meu Espaço

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders

Sadikovic, Bekim ; Levy, Michael A. ; Kerkhof, Jennifer ; Aref-Eshghi, Erfan ; Schenkel, Laila ; Stuart, Alan ; McConkey, Haley ; Henneman, Peter ; Venema, Andrea ; Schwartz, Charles E. ; Stevenson, Roger E. ; Skinner, Steven A. ; DuPont, Barbara R. ; Fletcher, Robin S. ; Balci, Tugce B. ; Siu, Victoria Mok ; Granadillo, Jorge L. ; Masters, Jennefer ; Kadour, Mike ; Friez, Michael J. ; van Haelst, Mieke M. ; Mannens, Marcel M.A.M. ; Louie, Raymond J. ; Lee, Jennifer A. ; Tedder, Matthew L. ; Alders, Marielle

Genetics in medicine, 2021-06, Vol.23 (6), p.1065-1074 [Periódico revisado por pares]

United States: Elsevier Inc

Sem texto completo

Citações Citado por
2
ACMG clinical laboratory standards for next-generation sequencing
ACMG clinical laboratory standards for next-generation sequencing
Material Type:
Artigo 		Adicionar ao Meu Espaço

ACMG clinical laboratory standards for next-generation sequencing

Rehm, Heidi L. ; Bale, Sherri J. ; Bayrak-Toydemir, Pinar ; Berg, Jonathan S. ; Brown, Kerry K. ; Deignan, Joshua L. ; Friez, Michael J. ; Funke, Birgit H. ; Hegde, Madhuri R. ; Lyon, Elaine

Genetics in medicine, 2013-09, Vol.15 (9), p.733-747 [Periódico revisado por pares]

United States: Elsevier Inc

Sem texto completo

Citações Citado por
3
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects
Material Type:
Artigo 		Adicionar ao Meu Espaço

Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects

Spellicy, Catherine J ; Norris, Joy ; Bend, Renee ; Bupp, Caleb ; Mester, Paul ; Reynolds, Tracy ; Dean, Jane ; Peng, Yunhui ; Alexov, Emil ; Schwartz, Charles E ; Stevenson, Roger S ; J Friez, Michael

European journal of human genetics : EJHG, 2018-03, Vol.26 (3), p.420-427 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
4
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability
Material Type:
Artigo 		Adicionar ao Meu Espaço

Altered Gene-Regulatory Function of KDM5C by a Novel Mutation Associated With Autism and Intellectual Disability

Vallianatos, Christina N ; Farrehi, Clara ; Friez, Michael J ; Burmeister, Margit ; Keegan, Catherine E ; Iwase, Shigeki

Frontiers in molecular neuroscience, 2018-04, Vol.11, p.104-104 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

Texto completo disponível

Citações Citado por
5
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome

Bend, Eric G ; Aref-Eshghi, Erfan ; Everman, David B ; Rogers, R Curtis ; Cathey, Sara S ; Prijoles, Eloise J ; Lyons, Michael J ; Davis, Heather ; Clarkson, Katie ; Gripp, Karen W ; Li, Dong ; Bhoj, Elizabeth ; Zackai, Elaine ; Mark, Paul ; Hakonarson, Hakon ; Demmer, Laurie A ; Levy, Michael A ; Kerkhof, Jennifer ; Stuart, Alan ; Rodenhiser, David ; Friez, Michael J ; Stevenson, Roger E ; Schwartz, Charles E ; Sadikovic, Bekim

Clinical epigenetics, 2019-04, Vol.11 (1), p.64-64, Article 64 [Periódico revisado por pares]

Germany: BioMed Central Ltd

Texto completo disponível

Citações Citado por
6
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?
Material Type:
Artigo 		Adicionar ao Meu Espaço

Three additional patients with EED-associated overgrowth: potential mutation hotspots identified?

Spellicy, Catherine J ; Peng, Yunhui ; Olewiler, Leah ; Cathey, Sara S ; Rogers, R Curtis ; Bartholomew, Dennis ; Johnson, Jacob ; Alexov, Emil ; Lee, Jennifer A ; Friez, Michael J ; Jones, Julie R

Journal of human genetics, 2019-06, Vol.64 (6), p.561-572 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
7
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

Normalized Clinical Severity Scores Reveal a Correlation between X Chromosome Inactivation and Disease Severity in Rett Syndrome

Merritt, Jonathan K ; Fang, Xiaolan ; Caylor, Raymond C ; Skinner, Steven A ; Friez, Michael J ; Percy, Alan K ; Neul, Jeffrey L

Genes, 2024-05, Vol.15 (5), p.594 [Periódico revisado por pares]

Switzerland: MDPI AG

Texto completo disponível

Citações Citado por
8
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A
Material Type:
Artigo 		Adicionar ao Meu Espaço

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

Bronicki, Lucas M ; Redin, Claire ; Drunat, Severine ; Piton, Amélie ; Lyons, Michael ; Passemard, Sandrine ; Baumann, Clarisse ; Faivre, Laurence ; Thevenon, Julien ; Rivière, Jean-Baptiste ; Isidor, Bertrand ; Gan, Grace ; Francannet, Christine ; Willems, Marjolaine ; Gunel, Murat ; Jones, Julie R ; Gleeson, Joseph G ; Mandel, Jean-Louis ; Stevenson, Roger E ; Friez, Michael J ; Aylsworth, Arthur S

European journal of human genetics : EJHG, 2015-04, Vol.23 (11), p.1482-1487 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
9
Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure
Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure
Material Type:
Artigo 		Adicionar ao Meu Espaço

Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure

Silber, Sherman J ; Lenahan, Kathleen M ; Levine, David J ; Pineda, Jorge A ; Gorman, Kim S ; Friez, Michael J ; Crawford, Eric C ; Gosden, Roger G

The New England journal of medicine, 2005-07, Vol.353 (1), p.58-63 [Periódico revisado por pares]

Boston, MA: Massachusetts Medical Society

Texto completo disponível

Citações Citado por
10
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome
Material Type:
Artigo 		Adicionar ao Meu Espaço

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

Friez, Michael J ; Risheg, Hiba ; Graham, John M ; Clark, Robin D ; Rogers, R Curtis ; Opitz, John M ; Moeschler, John B ; Peiffer, Andreas P ; May, Melanie ; Joseph, Sumy M ; Jones, Julie R ; Stevenson, Roger E ; Schwartz, Charles E

Nature genetics, 2007-04, Vol.39 (4), p.451-453 [Periódico revisado por pares]

London: Nature Publishing Group

Texto completo disponível

Citações Citado por
Resultados 1 2 3 4 5 next page

Personalize Seus Resultados

  1. Editar

Refine Search Results

Expandir Meus Resultados

  1.   

Mostrar Somente

  1. Recursos Online (64)

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

Buscando em bases de dados remotas. Favor aguardar.