33 results on '"Horn, Denise"'
Search Results
2. Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoudʼs Arthropathy
3. Biallelic COL3A1 mutations result in a clinical spectrum of specific structural brain anomalies and connective tissue abnormalities
4. Familial Gordon syndrome associated with a PIEZO2 mutation
5. Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement
6. An overlapping phenotype of Osteogenesis imperfecta and Ehlers–Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing
7. Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type
8. De novo partial deletion in GRID2 presenting with complicated spastic paraplegia
9. A new face of Borjeson–Forssman–Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype
10. FOXP1 mutations cause intellectual disability and a recognizable phenotype
11. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion
12. Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability
13. Mutations in the Prostaglandin Transporter Encoding Gene SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy and Isolated Digital Clubbing
14. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion
15. Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum
16. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
17. Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene
18. Identification of FOXP1 Deletions in Three Unrelated Patients with Mental Retardation and Significant Speech and Language Deficits
19. The face of Noonan syndrome: Does phenotype predict genotype
20. Four unrelated patients with lubs X-linked mental retardation syndrome and different Xq28 duplications
21. Nicolaides–Baraitser syndrome: Delineation of the phenotype
22. A Novel MECP2 Mutation in a Boy with Neonatal Encephalopathy and Facial Dysmorphism
23. Expanded Clinical Spectrum in Hepatocyte Nuclear Factor 1B-Maturity-Onset Diabetes of the Young
24. Expanded Mutational Spectrum in Cohen Syndrome, Tissue Expression, and Transcript Variants of COH1
25. HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects
26. SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
27. Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations
28. Communicating BRCA1 and BRCA2 Genetic Test Results
29. Genotype–Epigenotype–Phenotype Correlations in Females With Frontometaphyseal Dysplasia
30. Atypical ZFHX1B mutation associated with a mild Mowat–Wilson syndrome phenotype
31. Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome
32. Anauxetic dysplasia, a spondylometaepiphyseal dysplasia with extreme dwarfism
33. Phylloid Pigmentary Pattern with Mosaic Trisomy 13
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