1[期刊论文]

X-chromosomale Intelligenzminderung

作者：Andreas Tzschach

来源：medizinische genetik. 2018 ;30(3):328-333.doi:10.1007/s11825-018-0207-1

出版社：Springer Nature

2[期刊论文]

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature

作者：Yousef Shafeghati ;Kimia Kahrizi ;Hossein Najmabadi 等

来源：European Journal of Pediatrics. 2010 ;169(12):1535-1539.doi:10.1007/s00431-010-1267-7

出版社：Springer Nature

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3[期刊论文]

Angelman syndrome and severe infections in a patient with de novo 15q11.2–q13.1 deletion and maternally inherited 2q21.3 microdeletion

作者：Gerda Neubert ;Katja von Au ;Katrin Drossel 等

来源：Gene. 2013 ;512(2):453-455.doi:10.1016/j.gene.2012.10.061

出版社：Elsevier BV

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4[期刊论文]

Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome

作者：Janina Gburek-Augustat ;Stefanie Beck-Woedl ;Andreas Tzschach 等

来源：European Journal of Paediatric Neurology. 2016 ;20(4):661-665.doi:10.1016/j.ejpn.2016.04.005

出版社：Elsevier BV

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5[期刊论文]

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

作者：Andreas Rump ;Laura Hildebrand ;Andreas Tzschach 等

来源：European Journal of Human Genetics. 2013 ;21(8):887-890.doi:10.1038/ejhg.2012.267

出版社：Springer Nature

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6[期刊论文]

Autosomal dominant inheritance in a large family with focal facial dermal dysplasia （Brauer–Setleis syndrome）

作者：Luitgard M. Graul‐Neumann ;Karola M. Stieler ;Ulrike Blume‐Peytavi 等

来源：American Journal of Medical Genetics Part A. 2009 ;149A(4):746-750.doi:10.1002/ajmg.a.32728

出版社：John Wiley & Sons, Ltd.

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7[期刊论文]

Czech dysplasia: Report of a large family and further delineation of the phenotype

作者：Andreas Tzschach ;Sigrid Tinschert ;Elke Kaminsky 等

来源：American Journal of Medical Genetics Part A. 2008 ;146A(14):1859-1864.doi:10.1002/ajmg.a.32389

出版社：John Wiley & Sons, Ltd.

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8[期刊论文]

Interstitial deletion 2p11.2–p12: Report of a patient with mental retardation and review of the literature

作者：Andreas Tzschach ;Luitgard M. Graul‐Neumann ;Kateryna Konrat 等

来源：American Journal of Medical Genetics Part A. 2009 ;149A(2):242-245.doi:10.1002/ajmg.a.32637

出版社：John Wiley & Sons, Ltd.

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9[期刊论文]

Interstitial 3p25.3–p26.1 deletion in a patient with intellectual disability

作者：Angelika Riess ;Ute Grasshoff ;Karin Sch?ferhoff 等

来源：American Journal of Medical Genetics Part A. 2012 ;158A(10):2587-2590.doi:10.1002/ajmg.a.35562

出版社：John Wiley & Sons, Ltd.

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10[期刊论文]

Novel GDI1 mutation in a large family with nonsyndromic X‐linked intellectual disability

作者：Gertrud Strobl‐Wildemann ;Vera M. Kalscheuer ;Hao Hu 等

来源：American Journal of Medical Genetics Part A. 2011 ;155(12):3067-3070.doi:10.1002/ajmg.a.34291

出版社：John Wiley & Sons, Ltd.

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