9
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
8
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
3
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
4
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
8
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
4
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
4
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
5
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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