His scientific interests lie mostly in Genetics, Missense mutation, Anatomy, Osteochondrodysplasia and Dysplasia. His research in Genetics intersects with topics in Filamin and FLNB. His studies in Missense mutation integrate themes in fields like Molecular biology, Internal medicine, Spondyloepimetaphyseal dysplasia and Loss of heterozygosity.
The study incorporates disciplines such as Dwarfism and Radiography in addition to Anatomy. His Osteochondrodysplasia study integrates concerns from other disciplines, such as Genetic counseling, Achondrogenesis and Multiple epiphyseal dysplasia. His work carried out in the field of Dysplasia brings together such families of science as Endocrinology, Thanatophoric dysplasia, Prenatal diagnosis, Genetic heterogeneity and Pediatrics.
Ralph S. Lachman spends much of his time researching Anatomy, Dysplasia, Osteochondrodysplasia, Pathology and Genetics. The concepts of his Anatomy study are interwoven with issues in Dwarfism and Short stature. The Dysplasia study combines topics in areas such as Endocrinology, Radiography and Thanatophoric dysplasia.
His biological study spans a wide range of topics, including Achondrogenesis, Fetus, Achondroplasia and Kniest dysplasia. His Pathology research incorporates elements of Lethal skeletal dysplasia and Genetic heterogeneity. His Genetics research is multidisciplinary, incorporating elements of Molecular biology and FLNB.
The scientist’s investigation covers issues in Dysplasia, Genetics, Short stature, Anatomy and Phenotype. Ralph S. Lachman combines subjects such as Exome sequencing, Endocrinology and Bioinformatics with his study of Dysplasia. His study in Polydactyly, Gene, Exome, Genetic heterogeneity and Missense mutation is carried out as part of his Genetics studies.
His Missense mutation study incorporates themes from Locus and Skeletal disorder. His Short stature research integrates issues from Dystrophy, Disease, Pathology and Retinitis pigmentosa. His studies deal with areas such as Gestational age and Mr imaging as well as Anatomy.
Ralph S. Lachman focuses on Genetics, Genetic heterogeneity, Exome, Missense mutation and Polydactyly. Gene, Phenotype, Thanatophoric dysplasia, Fibroblast growth factor receptor 3 and Hypochondroplasia are subfields of Genetics in which his conducts study. Ralph S. Lachman interconnects Mucopolysaccharidosis Type IVA, Lysosomal storage disease, Immunology, Pathology and Elosulfase alfa in the investigation of issues within Genetic heterogeneity.
His Exome research incorporates themes from Molecular biology and PRKAR1A, Acrodysostosis. His Missense mutation study combines topics from a wide range of disciplines, such as Internal medicine, Fibroblast growth factor receptor 2, Fibroblast growth factor, Skeletal disorder and Periosteum. His Polydactyly research also works with subjects such as
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Nosology and classification of genetic skeletal disorders : 2010 revision
Matthew L. Warman;Valerie Cormier-Daire;Christine Hall;Deborah Krakow;Deborah Krakow.
American Journal of Medical Genetics Part A (2011)
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3
Patricia L. Tavormina;Rita Shiang;Leslie M. Thompson;Ya-Zhen Zhu.
Nature Genetics (1995)
Nosology and classification of genetic skeletal disorders: 2015 revision
Luisa Bonafe;Valerie Cormier-Daire;Christine Hall;Ralph Lachman.
American Journal of Medical Genetics Part A (2015)
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
M D Briggs;S M Hoffman;L M King;A S Olsen.
Nature Genetics (1995)
Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis
Deborah Krakow;Deborah Krakow;Stephen P Robertson;Lily M King;Timothy Morgan.
Nature Genetics (2004)
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Matthew J Rock;Jean Prenen;Vincent A Funari;Tara L Funari.
Nature Genetics (2008)
Pachydermoperiostosis: an update
M. Castori;L. Sinibaldi;R. Mingarelli;R. S. Lachman.
Clinical Genetics (2005)
Patent ductus arteriosus complicating the respiratory distress syndrome in preterm infants
Donald W. Thibeault;George C. Emmanouilides;Ronald J. Nelson;Ralph S. Lachman.
The Journal of Pediatrics (1975)
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum.
Michael D. Briggs;Michael D. Briggs;Geert R. Mortier;William G. Cole;Lily M. King.
American Journal of Human Genetics (1998)
Mutations in the Gene Encoding the Calcium-Permeable Ion Channel TRPV4 Produce Spondylometaphyseal Dysplasia, Kozlowski Type and Metatropic Dysplasia
Deborah Krakow;Joris Vriens;Natalia Camacho;Phi Luong.
American Journal of Human Genetics (2009)
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