skip to main content
Idioma:
Resultados 1 2 3 4 5 next page
Mostrar Somente
Result Number Material Type Add to My Shelf Action Record Details and Options
1
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability
Material Type:
Artigo 		Adicionar ao Meu Espaço

Biallelic loss-of-function variants in WDR11 are associated with microcephaly and intellectual disability

Haag, Natja ; Tan, Ene-Choo ; Begemann, Matthias ; Buschmann, Lars ; Kraft, Florian ; Holschbach, Petra ; Lai, Angeline H M ; Brett, Maggie ; Mochida, Ganeshwaran H ; DiTroia, Stephanie ; Pais, Lynn ; Neil, Jennifer E ; Al-Saffar, Muna ; Bastaki, Laila ; Walsh, Christopher A ; Kurth, Ingo ; Knopp, Cordula

European journal of human genetics : EJHG, 2021-11, Vol.29 (11), p.1663-1668 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
2
Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders
Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders
Material Type:
Artigo 		Adicionar ao Meu Espaço

Identification of KMT2D and KDM6A variants by targeted sequencing from patients with Kabuki syndrome and other congenital disorders

Yap, Chui-Sun ; Jamuar, Saumya Shekhar ; Lai, Angeline H.M. ; Tan, Ee-Shien ; Ng, Ivy ; Ting, Teck Wah ; Tan, Ene-Choo

Gene, 2020-03, Vol.731, p.144360-144360, Article 144360 [Periódico revisado por pares]

Netherlands: Elsevier B.V

Texto completo disponível

Citações Citado por
3
Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event
Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event
Material Type:
Artigo 		Adicionar ao Meu Espaço

Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event

Brett, Maggie ; Korovesis, George ; Lai, Angeline H M ; Lim, Eileen C P ; Tan, Ene-Choo

Journal of human genetics, 2017-07, Vol.62 (7), p.711-715 [Periódico revisado por pares]

England: Nature Publishing Group

Texto completo disponível

Citações Citado por
4
Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation
Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation
Material Type:
Artigo 		Adicionar ao Meu Espaço

Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation

Tan, Ene‐Choo ; Lai, Angeline H. M. ; Brett, Maggie S. Y.

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2135-2138 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

Texto completo disponível

Citações Citado por
5
Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene
Material Type:
Artigo 		Adicionar ao Meu Espaço

Coffin-Siris Syndrome-1: Report of five cases from Asian populations with truncating mutations in the ARID1B gene

Lian, Sophie ; Ting, Teck Wah ; Lai, Angeline H.M. ; Tan, Ee-Shien ; Wei, Heming ; Cham, Breana ; Tan, Ene-Choo

Journal of the neurological sciences, 2020-07, Vol.414, p.116819-116819, Article 116819 [Periódico revisado por pares]

Netherlands: Elsevier B.V

Texto completo disponível

Citações Citado por
6
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Material Type:
Artigo 		Adicionar ao Meu Espaço

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

Reijnders, Margot R F ; Janowski, Robert ; Alvi, Mohsan ; Self, Jay E ; van Essen, Ton J ; Vreeburg, Maaike ; Rouhl, Rob P W ; Stevens, Servi J C ; Stegmann, Alexander P A ; Schieving, Jolanda ; Pfundt, Rolph ; van Dijk, Katinke ; Smeets, Eric ; Stumpel, Connie T R M ; Bok, Levinus A ; Cobben, Jan Maarten ; Engelen, Marc ; Mansour, Sahar ; Whiteford, Margo ; Chandler, Kate E ; Douzgou, Sofia ; Cooper, Nicola S ; Tan, Ene-Choo ; Foo, Roger ; Lai, Angeline H M ; Rankin, Julia ; Green, Andrew ; Lönnqvist, Tuula ; Isohanni, Pirjo ; Williams, Shelley ; Ruhoy, Ilene ; Carvalho, Karen S ; Dowling, James J ; Lev, Dorit L ; Sterbova, Katalin ; Lassuthova, Petra ; Neupauerová, Jana ; Waugh, Jeff L ; Keros, Sotirios ; Clayton-Smith, Jill ; Smithson, Sarah F ; Brunner, Han G ; van Hoeckel, Ceciel ; Anderson, Mel ; Clowes, Virginia E ; Siu, Victoria Mok ; DDD study, The ; Selber, Paulo ; Leventer, Richard J ; Nellaker, Christoffer ; Niessing, Dierk ; Hunt, David ; Baralle, Diana

Journal of medical genetics, 2018-02, Vol.55 (2), p.104-113 [Periódico revisado por pares]

England: BMJ Publishing Group Ltd

Texto completo disponível

Citações Citado por
7
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy
Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Prenatal cerebral imaging features of a new syndromic entity related to KIAA1109 pathogenic variants mimicking tubulinopathy

Cabet, Sara ; Putoux, Audrey ; Buenerd, Annie ; Gueneau, Lucie ; Reymond, Alexandre ; Thia, Edwin W.H. ; Lai, Angeline H.M. ; Schindewolf, Erica M. ; Sanlaville, Damien ; Lesca, Gaetan ; Guibaud, Laurent

Prenatal diagnosis, 2020-01, Vol.40 (2), p.276-281 [Periódico revisado por pares]

England

Texto completo disponível

Citações Citado por
8
Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes
Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes
Material Type:
Artigo 		Adicionar ao Meu Espaço

Speckled brain lesions in Incontinentia Pigmenti patients with acquired brain syndromes

RR, Pravin ; Douch, Catherine ; Aan Koh, Mark Jean ; Lai, Angeline H M ; Lim, CC Tchoyoson ; Hartley, Louise ; Thomas, Terrence ; Yeo, Tong Hong

European journal of paediatric neurology, 2021-07, Vol.33, p.106-111 [Periódico revisado por pares]

Elsevier Ltd

Texto completo disponível

Citações Citado por
9
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients

Lim, Eileen C P ; Brett, Maggie ; Lai, Angeline H M ; Lee, Siew-Peng ; Tan, Ee-Shien ; Jamuar, Saumya S ; Ng, Ivy S L ; Tan, Ene-Choo

Human genomics, 2015-12, Vol.9 (1), p.33-33, Article 33 [Periódico revisado por pares]

England: BioMed Central

Texto completo disponível

Citações Citado por
10
Additional individuals with CHD7 variants in Chinese and other southeast Asian patients
Additional individuals with CHD7 variants in Chinese and other southeast Asian patients
Material Type:
Artigo 		Adicionar ao Meu Espaço

Additional individuals with CHD7 variants in Chinese and other southeast Asian patients

Wei, Heming ; Tan, Ee‐Shien ; Jamuar, Saumya ; Lai, Angeline H. M. ; Ng, Ivy ; Tan, Ene‐Choo

American journal of medical genetics. Part A, 2020-10, Vol.182 (10), p.2461-2465 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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. Revistas revisadas por pares (72)

Refinar Meus Resultados

Tipo de Recurso 

  1. Artigos  (82)
  2. Reports  (3)
  3. Mais opções open sub menu

Data de Publicação 

De até
Refinar
  1. Antes de2005  (5)
  2. 2005Até2012  (13)
  3. 2013Até2016  (31)
  4. 2017Até2021  (28)
  5. Após 2021  (9)
  6. Mais opções open sub menu

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

Buscando em bases de dados remotas. Favor aguardar.