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Elsevier电子期刊(10)

在“Elsevier电子期刊”中，命中：10条，耗时：0.0199911 秒

在所有数据库中总计命中：10条

1.Renal dysfunction in sibs with band like calcification with simplified gyration and polymicrogyria: Report of a new mutation and review of literature

作者：Shagun Aggarwal ; ^{shagun.genetics@gmail.com" class="auth_mail" title="E-mail the corresponding author}

关键词：Occludin ; Band like calcification with simplified gyration and polymicrogyria ; Renal dysfunction ; Pseudo TORCH syndrome

刊名：European Journal of Medical Genetics

出版年：2016

2.Congenital infection-like syndrome with intracranial calcification

作者：Yoko Mizuno^a ; ^{mitsuda-tky@umin.ac.jp"" rel=""nofollow} ; Kan Takahashi^a ; Takashi Igarashi^a ; Makiko Saito^b ; Masashi Mizuguchi^b

关键词：Intracranial calcification ; Cerebellar hypoplasia ; Pancytopenia ; Immune abnormality ; Congenital infection-like syndrome ; Pseudo-TORCH syndrome ; Aicardi-Goutiè ; res syndrome ; Hoyeraal-Hreidarsson syndrome

刊名：Brain and Development

出版年：2011

3.Syndromes g¨¦n¨¦tiques mimant les infections cong¨¦nitales?: ¨¤ propos de 2?cas

作者：M. Thibault^a ; ^{mariellet88@gmail.com} ; J. Leydet^a ; E. Tournier-Lasserve^b ; Y.-J. Crow^c ; F. Rivier^a ; B. Echenne^a ; C. Langlois^d ; H. Daudet^e ; P. Sarda^f ; A. Roubertie^a ; ^g

刊名：Archives de Pediatrie

出版年：2011

4.Aicardi–Goutières syndrome (AGS)

作者：John B.P. Stephenson

关键词：Aicardi– ; Goutiè ; res syndrome ; Interferon-alpha ; Congenital infection ; Chilblains ; Pernio ; Nucleases

刊名：European Journal of Paediatric Neurology

出版年：2008

5.P301 - Syndromes génétiques mimant les infections congénitales : une nouvelle forme ?

作者：M. Thibault ; F. Rivier ; B. Echenne ; H. Daude ; P. Sarda ; A. Roubertie

刊名：Archives de Pediatrie

出版年：2010

6.Pseudo-TORCH syndrome or Baraitser–Reardon syndrome: diagnostic criteria

作者：Vivarelli ; Rossella ; Grosso ; Salvatore ; Cioni ; Maddalena ; Galluzzi ; Paolo ; Monti ; Lucia ; Morgese ; Guido ; et. al.

关键词：Microcephaly ; Intracranial calcification ; Congenital infection ; Pseudo-TORCH syndrome

刊名：Brain and Development

出版年：2001

7.A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts

作者：Ganeshwaran H. Mochida ; Vijay S. Ganesh ; Jillian M. Felie ; Danielle Gleason ; R. Sean Hill ; Katie Rose Clapham ; Daniel Rakiec ; Wen-Hann Tan ; Nadia Akawi ; Muna Al-Saffar ; Jennifer N. Partlow ; Sigrid Tin

刊名：The American Journal of Human Genetics

出版年：2010

8.Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

作者：Mary C. O'Driscoll ; Sarah B. Daly ; Jill E. Urquhart ; Graeme C.M. Black ; Daniela T. Pilz ; Knut Brockmann ; Meriel McEntagart ; Ghada Abdel-Salam ; Maha Zaki ; Nicole I. Wolf ; Roger L. Ladda ; Susan Sell ; St

刊名：The American Journal of Human Genetics

出版年：2010

9.NNP015 Pseudo-TORCH syndrome: a case report

作者：I. Erol ; F. Alehan ; Ö ; . Yalç ; ln ; M. Ö ; zkale

刊名：European Journal of Paediatric Neurology

出版年：2007

10.Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus (AGS1

作者：Y.J. Crow ; A.P. Jackson ; E. Roberts ; E. van Beusekom ; P. Barth ; P. Corry ; C.D. Ferrie ; B.C.J. Hamel ; R. Jayatunga ; G. Karbani ; R. Ká ; lmá ; nchey ; A. Kelemen ; M. King ; R. Kumar ; J. Livingstone ; R. Massey ; R. McWilliam ; A. Meager ; C. Rittey ; J.B.P. Stephenson ; et al.

刊名：The American Journal of Human Genetics

出版年：2000

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