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

1 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;...

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2 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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3 A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome [期刊论文]

来源：Molecular syndromology , 2016

作者:Jennifer L. Heithaus

关键词:COL25A1;Developmental delay;...

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4 Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes [期刊论文]

来源：Molecular syndromology , 2016

作者:Gabrielle S. Vianna

关键词:Congenital malformations;Developmental delay;...

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5 De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome [期刊论文]

来源：Molecular syndromology , 2017

作者:Malene Lundsgaard

关键词:Blepharophimosis;Developmental delay;...

使用许可:CC BY

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6 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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