• 已选条件：
  • × Molecular syndromolog
  • × Developmental delay
 全选  【符合条件的数据共：9条】

1 Typical Face, Developmental Delay, and Hearing Loss in a Patient with 3M Syndrome: The Co-Occurrence of Two Rare Conditions [期刊论文]

来源：Molecular syndromology , 2022

作者:Akalın, Akçahan;Şimşek-Kiper, Pelin Ö.;Taşkıran, Ekim;等

关键词:3M syndrome;CUL7 gene;...

使用许可:CC BY

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2 Expanding the Phenotypic Spectrum of HIVEP2 -Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature [期刊论文]

来源：Molecular syndromology , 2022

作者:Quental, Rita;Borges, Joana Pires;Santos, Helena;等

关键词:HIVEP2;Intellectual disability;...

使用许可:CC BY

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3 Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases [期刊论文]

来源：Molecular syndromology , 2022

作者:Kahraman, Ayca Burcu;Akar, Halil Tuna;Güleray Lafcı, Naz;等

关键词:Developmental delay;HPD gene;...

使用许可:CC BY

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4 Exome Sequencing Identifies a Novel SIN3A Variant in a Patient with Witteveen-Kolk Syndrome [期刊论文]

来源：Molecular syndromology , 2022

作者:Penon-Portmann, Monica;Carlston, Colleen M.;Martin, Pierre-Marie;等

关键词:15q24 deletion;Developmental delay;...

使用许可:CC BY

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5 8p11 Microduplication Is Associated with Neonatal Stridor [期刊论文]

来源：Molecular syndromology , 2018

作者:Surasak Puvabanditsin

关键词:Chromosomal microduplication;Congenital anomaly;...

使用许可:CC BY

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6 Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication [期刊论文]

来源：Molecular syndromology , 2018

作者:Piero Pavone

关键词:Developmental delay;Xp22.31 duplication;...

使用许可:CC BY

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