Sclerosing bone dysplasias

অনুযায়ী Lachman, Ralph
প্রকাশিত 1981

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অনুযায়ী Lachman, Ralph S.
প্রকাশিত Taybi and Lachman's Radiology of Syndromes, Metabolic Disorders and Skeletal Dysplasias (2007)

A Review of the Principles of Radiological Assessment of Skeletal Dysplasias

অনুযায়ী Alanay, Yasemin, Lachman, Ralph S.
প্রকাশিত 2011

New Lethal Skeletal Dysplasia with Dandy-Walker Malformation, Congenital Heart Defects, Abnormal Thumbs, Hypoplastic Genitalia, and Distinctive Facies

অনুযায়ী Stevens, Cathy A., Lachman, Ralph S.
প্রকাশিত 2010

Guidelines for the prenatal diagnosis of fetal skeletal dysplasias

অনুযায়ী Krakow, Deborah, Lachman, Ralph S., Rimoin, David L.
প্রকাশিত 2009

Early-Onset Osteoarthritis in Ehlers-Danlos Syndrome type VIII

অনুযায়ী Reinstein, Eyal, Pariani, Mitchel, Lachman, Ralph S, Nemec, Stephen, Rimoin, David L
প্রকাশিত 2012

The Erlenmeyer Flask Bone Deformity in the Skeletal Dysplasias

অনুযায়ী Faden, Maha A., Krakow, Deborah, Ezgu, Fatih, Rimoin, David L., Lachman, Ralph S.
প্রকাশিত 2009

A Second Locus for Schneckenbecken Dysplasia Identified by a Mutation in the Gene Encoding Inositol Polyphosphate Phosphatase-Like 1 (INPPL1)

অনুযায়ী Lee, Hane, Nevarez, Lisette, Lachman, Ralph S., Wilcox, William R., Krakow, Deborah, Cohn, Daniel H.
প্রকাশিত Am J Med Genet A (2015)

Axial spondylometaphyseal dysplasia with retinitis pigmentosa—a clinical report and diagnostic clues

অনুযায়ী Reinstein, Eyal, Okenfuss, Ericka B., Wadhawan, Isha, Wilnai, Yael, Manning, Melanie, Rimoin, David L., Lachman, Ralph S.
প্রকাশিত 2013

Evaluation of Prenatal-Onset Osteochondrodysplasias by Ultrasonography: A Retrospective and Prospective Analysis

অনুযায়ী Krakow, Deborah, Alanay, Yasemin, Rimoin, Lauren P., Lin, Victoria, Wilcox, William R., Lachman, Ralph S., Rimoin, David L.
প্রকাশিত 2008

FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry

অনুযায়ী Xue, Yuan, Sun, Angela, Mekikian, P Betty, Martin, Jorge, Rimoin, David L, Lachman, Ralph S, Wilcox, William R
প্রকাশিত Mol Genet Genomic Med (2014)

Somatic Mosaicism for a Lethal TRPV4 Mutation Results in Non-Lethal Metatropic Dysplasia

অনুযায়ী Weinstein, Michael M., Kang, Taekyu, Lachman, Ralph S., Bamshad, Michael, Nickerson, Deborah A., Krakow, Deborah, Cohn, Daniel H.
প্রকাশিত Am J Med Genet A (2016)

Severe Cleidocranial dysplasia and Hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2

অনুযায়ী El-Gharbawy, Areeg H., Peeden, Joseph N., Lachman, Ralph S., Graham, John M., Moore, Stephen R., Rimoin, David L.
প্রকাশিত 2010

Galsulfase (Naglazyme®) therapy in infants with mucopolysaccharidosis VI

অনুযায়ী Harmatz, Paul R., Garcia, Paula, Guffon, Nathalie, Randolph, Linda M., Shediac, Renée, Braunlin, Elizabeth, Lachman, Ralph S., Decker, Celeste
প্রকাশিত 2013

IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome

অনুযায়ী Zhang, Wenjuan, Taylor, S. Paige, Nevarez, Lisette, Lachman, Ralph S., Nickerson, Deborah A., Bamshad, Michael, Krakow, Deborah, Cohn, Daniel H.
প্রকাশিত Hum Mol Genet (2016)

Terminal Osseous Dysplasia With Pigmentary Defects (TODPD): Follow-Up of the First Reported Family, Characterization of the Radiological Phenotype, and Refinement of the Linkage Re...

অনুযায়ী Brunetti-Pierri, Nicola, Lachman, Ralph, Lee, Kwanghyuk, Leal, Suzanne M., Piccolo, Pasquale, Van den Veyver, Ignatia B., Bacino, Carlos A.
প্রকাশিত 2010

Diagnosis of ALG12-CDG by exome sequencing in a case of severe skeletal dysplasia

অনুযায়ী Murali, Chaya, Lu, James T., Jain, Mahim, Liu, David S., Lachman, Ralph, Gibbs, Richard A., Lee, Brendan H., Cohn, Daniel, Campeau, Philippe M.
প্রকাশিত 2014

Opsismodysplasia resulting from an insertion mutation in the SH2 domain which destabilizes INPPL1

অনুযায়ী Li, Bing, Krakow, Deborah, Nickerson, Deborah A., Bamshad, Michael J., Chang, Yong, Lachman, Ralph S., Yilmaz, Alev, Kayserili, Hülya, Cohn, Daniel H.
প্রকাশিত 2014

Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome

অনুযায়ী Taylor, S. Paige, Dantas, Tiago J., Duran, Ivan, Wu, Sulin, Lachman, Ralph S., Nelson, Stanley F., Cohn, Daniel H., Vallee, Richard B., Krakow, Deborah
প্রকাশিত Nat Commun (2015)

Exome Sequencing Identifies PDE4D Mutations in Acrodysostosis

অনুযায়ী Lee, Hane, Graham, John M., Rimoin, David L., Lachman, Ralph S., Krejci, Pavel, Tompson, Stuart W., Nelson, Stanley F., Krakow, Deborah, Cohn, Daniel H.
প্রকাশিত 2012