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Novel Mutations in Geleophysic Dysplasia Type 1.
- Published in:
- Pediatric & Developmental Pathology, 2014, v. 17, n. 3, p. 209, doi. 10.2350/13-08-1370-CR.1
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- Publication type:
- Article
Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis.
- Published in:
- Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.642097
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- Publication type:
- Article
Genetic homogeneity of the Camurati–Engelmann disease.
- Published in:
- Clinical Genetics, 2000, v. 58, n. 2, p. 150, doi. 10.1034/j.1399-0004.2000.580211.x
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- Publication type:
- Article
Dysmorphic phenotype and neurological impairment in 22 retinoblastoma patients with constitutional cytogenetic 13q deletion.
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- Clinical Genetics, 1999, v. 55, n. 6, p. 478, doi. 10.1034/j.1399-0004.1999.550614.x
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- Publication type:
- Article
Prevalence of fibrodysplasia ossificans progressiva (FOP) in France: an estimate based on a record linkage of two national databases.
- Published in:
- 2017
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- Publication type:
- journal article
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
- Published in:
- 2015
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- Publication type:
- journal article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 391, doi. 10.1186/s13023-014-0207-4
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- Publication type:
- Article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
- Published in:
- 2014
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- Publication type:
- Journal Article
Sotos syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2007, v. 2, p. 36, doi. 10.1186/1750-1172-2-36
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- Publication type:
- Article
Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
- Published in:
- 2022
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- Publication type:
- journal article
Spectrum of epilepsy in terminal 1p36 deletion syndrome.
- Published in:
- Epilepsia (Series 4), 2008, v. 49, n. 3, p. 509, doi. 10.1111/j.1528-1167.2007.01424.x
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- Publication type:
- Article
Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4321, doi. 10.3390/ijms22094321
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- Publication type:
- Article
Interplay between Histone and DNA Methylation Seen through Comparative Methylomes in Rare Mendelian Disorders.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3735, doi. 10.3390/ijms22073735
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- Publication type:
- Article
SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.
- Published in:
- Human Genetics, 2022, v. 141, n. 7, p. 1287, doi. 10.1007/s00439-021-02420-x
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- Publication type:
- Article
SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 509, doi. 10.1002/ajmg.c.31746
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- Article
An automatic facial landmarking for children with rare diseases.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 5, p. 1210, doi. 10.1002/ajmg.a.63126
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- Publication type:
- Article
Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 1, p. 77, doi. 10.1002/ajmg.a.62989
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- Publication type:
- Article
Sleep‐disordered breathing and its management in children with rare skeletal dysplasias.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2108, doi. 10.1002/ajmg.a.62236
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- Publication type:
- Article
Growth charts in Kabuki syndrome 1.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 3, p. 446, doi. 10.1002/ajmg.a.61462
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- Publication type:
- Article
Sleep‐disordered breathing in children with pycnodysostosis.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 122, doi. 10.1002/ajmg.a.61393
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- Publication type:
- Article
PAPSS2‐related brachyolmia: Clinical and radiological phenotype in 18 new cases.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 9, p. 1884, doi. 10.1002/ajmg.a.61282
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- Publication type:
- Article
Further expanding the mutational spectrum and investigation of genotype–phenotype correlation in 3M syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1157, doi. 10.1002/ajmg.a.61154
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- Publication type:
- Article
Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 4, p. 639, doi. 10.1002/ajmg.a.61050
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- Publication type:
- Article
Sleep-disordered breathing and its management in children with achondroplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 868, doi. 10.1002/ajmg.a.38130
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- Publication type:
- Article
A second family with autosomal recessive spondylometaphyseal dysplasia and early death.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 4, p. 1010, doi. 10.1002/ajmg.a.36372
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- Publication type:
- Article
Dysspondyloenchondromatosis without COL2A1 mutation: Possible genetic heterogeneity.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 3, p. 769, doi. 10.1002/ajmg.a.36331
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- Publication type:
- Article
Orthopedics management of acromicric dysplasia: Follow up of nine patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 331, doi. 10.1002/ajmg.a.36139
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- Publication type:
- Article
The identification of MAFB mutations in eight patients with multicentric carpo-tarsal osteolysis supports genetic homogeneity but clinical variability.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3023, doi. 10.1002/ajmg.a.36151
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- Publication type:
- Article
A new form of severe spondyloepimetaphyseal dysplasia: Clinical and radiological characterization.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2645, doi. 10.1002/ajmg.a.36132
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- Publication type:
- Article
Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1786, doi. 10.1002/ajmg.a.35984
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- Publication type:
- Article
Xq25 duplications encompassing GRIA 3 and STAG 2 genes in two families convey recognizable X-linked intellectual disability with distinctive facial appearance.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 6, p. 1370, doi. 10.1002/ajmg.a.35307
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- Publication type:
- Article
IMPAD1 mutations in two Catel-Manzke like patients.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2183, doi. 10.1002/ajmg.a.35504
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- Publication type:
- Article
Lung function, diagnosis, and treatment of sleep-disordered breathing in children with achondroplasia.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 8, p. 1987, doi. 10.1002/ajmg.a.35441
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- Publication type:
- Article
Progressive polyepiphyseal dysplasia with arthropathy: A distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1754, doi. 10.1002/ajmg.a.35424
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- Publication type:
- Article
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 2, p. 333, doi. 10.1002/ajmg.a.34401
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- Publication type:
- Article
Assessing bleeding risk in 18 children with Osteogenesis imperfecta.
- Published in:
- British Journal of Haematology, 2021, v. 192, n. 4, p. 785, doi. 10.1111/bjh.17303
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- Publication type:
- Article
Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 4, p. 445, doi. 10.1038/ng.1105
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- Publication type:
- Article
Mutations at a single codon in Mad homology 2 domain of SMAD4 cause Myhre syndrome.
- Published in:
- Nature Genetics, 2012, v. 44, n. 1, p. 85, doi. 10.1038/ng.1016
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- Publication type:
- Article
Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 306, doi. 10.1038/ng.778
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- Publication type:
- Article
ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-β bioavailability regulation.
- Published in:
- Nature Genetics, 2008, v. 40, n. 9, p. 1119, doi. 10.1038/ng.199
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- Publication type:
- Article
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).
- Published in:
- Nature Genetics, 2008, v. 40, n. 3, p. 284, doi. 10.1038/ng.2007.66
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- Publication type:
- Article
Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 8, p. 710, doi. 10.1002/pd.385
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- Publication type:
- Article
Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency.
- Published in:
- 2000
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- Publication type:
- journal article
Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign.
- Published in:
- Pediatric Radiology, 2014, v. 44, n. 3, p. 344, doi. 10.1007/s00247-013-2806-y
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- Publication type:
- Article
“Duplicate calcaneus”: a rare developmental defect observed in several skeletal dysplasias.
- Published in:
- Pediatric Radiology, 2001, v. 31, n. 1, p. 38, doi. 10.1007/s002470000354
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- Publication type:
- Article
Determinants of dental care use in patients with rare diseases: a qualitative exploration.
- Published in:
- BMC Oral Health, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12903-023-03048-1
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- Publication type:
- Article
Defect in N-glycosylation of proteins is tissue-dependent in Congenital Disorders of Glycosylation Ia.
- Published in:
- Glycobiology, 2000, v. 10, n. 12, p. 1277, doi. 10.1093/glycob/10.12.1277
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- Publication type:
- Article
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
- Published in:
- Human Genetics, 2017, v. 136, n. 4, p. 463, doi. 10.1007/s00439-017-1772-0
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- Publication type:
- Article
Chloride channel 7 (CLCN7) gene mutations in intermediate autosomal recessive osteopetrosis.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 186, doi. 10.1007/s00439-002-0861-9
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- Publication type:
- Article
Homozygosity mapping of a Weill-Marchesani syndrome locus to chromosome 19p13.3-p13.2.
- Published in:
- Human Genetics, 2002, v. 110, n. 4, p. 366, doi. 10.1007/s00439-002-0689-3
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- Publication type:
- Article