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9
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dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of tfdp1 case report.pdf
- dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of tfdp1 case report
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8
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microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.pdf
- microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism
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3
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repair of bilateral abdominoscrotal hydrocele with testicular dysmorphism using laparoscopic extracorporeal ligation of the internal inguinal ring and orchiopexy论文.pdf
- repair of bilateral abdominoscrotal hydrocele with testicular dysmorphism using laparoscopic extracorporeal ligation of the internal inguinal ring and orchiopexy论文
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4
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two patients with lt;em gt;ep300 lt;em gt; mutations and facial dysmorphism different from the classic rubinstein-taybi syndrome.pdf
- two patients with
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8
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postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome)-a distinct syndrome.pdf
- postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome)—a distinct syndrome
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4
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an unbalanced translocation between chromosomes 2p and 6p associated with axenfeld-rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism.pdf
- an unbalanced translocation between chromosomes 2p and 6p associated with axenfeld-rieger anomaly type 3, hearing loss, developmental delay, and distinct facial dysmorphism
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4
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microdeletion 11q13.1.q13.2 in a patient presenting with developmental delay, facial dysmorphism, and esophageal atresia possible role of the gstp1 gene in esophagus malformation.pdf
- microdeletion 11q13.1.q13.2 in a patient presenting with developmental delay, facial dysmorphism, and esophageal atresia possible role of the gstp1 gene in esophagus malformation
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5
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a novel mutation in gmppa in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.[2017][am j med genet.pdf
- a novel mutation in gmppa in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction.[2017][am j med genet
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向豆丁求助:有没有dysmorphism?