Instruct: Given the title of a scientific paper, retrieve paper titles that are cited by the given paper
Query: Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing
Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).
Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
Mouse model of Noonan syndrome reveals cell type– and gene dosage–dependent effects of Ptpn11 mutation
Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family
Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease
Noonan Syndrome: Clinical Features, Diagnosis, and Management Guidelines
Characterization of a 7.6-Mb germline deletion encompassing the NF1 locus and about a hundred genes in an NF1 contiguous gene syndrome patient
Novel LMNA Mutation in Atypical Werner Syndrome Presenting With Ischemic Disease
Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia
Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes
Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome
A novel EFNB1 mutation (c.712delG) in a family with craniofrontonasal syndrome and diaphragmatic hernia.
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome
Weaver syndrome andEZH2mutations: Clarifying the clinical phenotype
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation
Recurrent GNAQ mutations in anastomosing hemangiomas
A Case of Thanatophoric Dysplasia Type 2: A Novel Mutation
A Low-Frequency Versatile Wireless Power Transfer Technology for Biomedical Implants
Sentiment Analysis of a German Twitter-Corpus
Review on the application of artificial intelligence in antivirus detection systemi
The Nance-Horan syndrome.
A first look at mobile cloud storage services: architecture, experimentation, and challenges