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Bi‐allelic variants in MYH3 cause recessively‐inherited arthrogryposis.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 4, p. 483, doi. 10.1111/cge.14570
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- Publication type:
- Article
Hereditary breast cancer: new genetic developments, new therapeutic avenues.
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- Human Genetics, 2008, v. 124, n. 1, p. 31, doi. 10.1007/s00439-008-0529-1
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- Publication type:
- Article
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
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- Journal of Bone & Mineral Research, 2017, v. 32, n. 9, p. 1853, doi. 10.1002/jbmr.3173
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- Publication type:
- Article
Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM 5 gene.
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- Journal of Bone & Mineral Research, 2013, v. 28, n. 11, p. 2333, doi. 10.1002/jbmr.1983
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- Publication type:
- Article
Phenotypic Variability of Osteogenesis Imperfecta Type V Caused by an IFITM 5 Mutation.
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- Journal of Bone & Mineral Research, 2013, v. 28, n. 7, p. 1523, doi. 10.1002/jbmr.1891
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- Publication type:
- Article
Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. R1, p. R1, doi. 10.1093/hmg/ddu123
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- Publication type:
- Article
MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4339, doi. 10.1093/hmg/ddt283
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- Publication type:
- Article
Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 22, p. 4904, doi. 10.1093/hmg/dds326
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- Publication type:
- Article
miRNA-34c regulates Notch signaling during bone development.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 13, p. 2991, doi. 10.1093/hmg/dds129
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- Publication type:
- Article
MicroRNA miR-23a cluster promotes osteocyte differentiation by regulating TGF-β signalling in osteoblasts.
- Published in:
- Nature Communications, 2017, v. 8, n. 4, p. 15000, doi. 10.1038/ncomms15000
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- Publication type:
- Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1272, doi. 10.1038/ejhg.2013.288
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- Publication type:
- Article
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
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- European Journal of Human Genetics, 2014, v. 22, n. 11, p. 1340, doi. 10.1038/ejhg.2014.182
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- Publication type:
- Article
DNA Methylation Signature for JARID2 -Neurodevelopmental Syndrome.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 8001, doi. 10.3390/ijms23148001
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- Publication type:
- Article
Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research.
- Published in:
- Genetics, 2017, v. 207, n. 1, p. 9, doi. 10.1534/genetics.117.203067
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- Publication type:
- Article
Clinicopathological Relationships in an Aged Case of DOORS Syndrome With a p.Arg506X Mutation in the ATP6V1B2 Gene.
- Published in:
- Frontiers in Neurology, 2020, p. N.PAG, doi. 10.3389/fneur.2020.00767
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- Publication type:
- Article
A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant.
- Published in:
- 2022
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- Publication type:
- Case Study
Spondyloepimetaphysial Dysplasia with Joint Laxity in Three Siblings with B3GALT6 Mutations.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 6, p. 303, doi. 10.1159/000479672
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- Publication type:
- Article
Genetic Testing in a Cohort of Complex Esophageal Atresia.
- Published in:
- Molecular Syndromology, 2017, v. 8, n. 5, p. 236, doi. 10.1159/000477429
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- Publication type:
- Article
The ATP6V1B2 DDOD/DOORS-Associated p.Arg506* Variant Causes Hyperactivity and Seizures in Mice.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1538, doi. 10.3390/genes14081538
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- Publication type:
- Article
A Discussion With Dr. Philippe Campeau, Medical Geneticist and Clinician-Scientist.
- Published in:
- 2022
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- Publication type:
- journal article
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 661, doi. 10.1038/ng.3282
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- Publication type:
- Article
Mesenchymal Stromal Cells Engineered to Express Erythropoietin Induce Anti-erythropoietin Antibodies and Anemia in Allorecipients.
- Published in:
- Molecular Therapy, 2009, v. 17, n. 2, p. 369, doi. 10.1038/mt.2008.270
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- Publication type:
- Article
BAFopathies’ DNA methylation epi-signatures demonstrate diagnostic utility and functional continuum of Coffin-Siris and Nicolaides-Baraitser syndromes.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07193-y
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- Publication type:
- Article
DOORS syndrome: Phenotype, genotype and comparison with Coffin-Siris syndrome.
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 3, p. 327, doi. 10.1002/ajmg.c.31412
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- Publication type:
- Article
Functional studies in yeast confirm the pathogenicity of a new GINS3Meier–Gorlin syndrome variant.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 3, p. 342, doi. 10.1111/cge.14545
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- Publication type:
- Article
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 313, doi. 10.1111/cge.13877
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- Publication type:
- Article
Biallelic variants in GLE1 with survival beyond neonatal period.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 6, p. 622, doi. 10.1111/cge.13841
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- Publication type:
- Article
Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 1, p. 112, doi. 10.1111/cge.13425
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- Publication type:
- Article
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
- Published in:
- Human Genetics, 2022, v. 141, n. 8, p. 1423, doi. 10.1007/s00439-022-02433-0
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- Publication type:
- Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
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- Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
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- Publication type:
- Article
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
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- Human Genetics, 2021, v. 140, n. 6, p. 879, doi. 10.1007/s00439-020-02251-2
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- Publication type:
- Article
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
- Published in:
- Human Genetics, 2018, v. 137, n. 11/12, p. 905, doi. 10.1007/s00439-018-1950-8
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- Publication type:
- Article
Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS).
- Published in:
- JBMR Plus, 2020, v. 4, n. 3, p. 1, doi. 10.1002/jbm4.10335
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- Publication type:
- Article
Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.
- Published in:
- 2017
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- Publication type:
- journal article
Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns.
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- Nucleic Acids Research, 2021, v. 49, n. 6, p. 3524, doi. 10.1093/nar/gkab118
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- Publication type:
- Article
Rickets manifestations in a child with metaphyseal anadysplasia, report of a spontaneously resolving case.
- Published in:
- 2021
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- Publication type:
- journal article
Requirement of argininosuccinate lyase for systemic nitric oxide production.
- Published in:
- Nature Medicine, 2011, v. 17, n. 12, p. 1619, doi. 10.1038/nm.2544
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- Publication type:
- Article
A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.
- Published in:
- Human Mutation, 2018, v. 39, n. 6, p. 827, doi. 10.1002/humu.23426
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- Publication type:
- Article
Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 667, doi. 10.1002/humu.22290
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- Publication type:
- Article
Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis.
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- Human Mutation, 2013, v. 34, n. 1, p. 97, doi. 10.1002/humu.22222
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- Publication type:
- Article
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
- Published in:
- Human Mutation, 2012, v. 33, n. 11, p. 1520, doi. 10.1002/humu.22141
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- Publication type:
- Article
epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 4, p. 584, doi. 10.1093/hmg/ddy370
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- Publication type:
- Article
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 4, p. 589, doi. 10.1093/hmg/ddx426
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- Publication type:
- Article
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 9, p. 1706, doi. 10.1093/hmg/ddx077
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- Publication type:
- Article
An adult patient with Tatton–Brown–Rahman syndrome caused by a novel DNMT3A variant and axonal polyneuropathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 4, p. 1, doi. 10.1002/ajmg.a.63484
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- Publication type:
- Article
Retrospective analysis of fetal vertebral defects: Associated anomalies, etiologies, and outcome.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 664, doi. 10.1002/ajmg.a.61468
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- Publication type:
- Article
Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 733, doi. 10.1002/ajmg.a.38059
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- Publication type:
- Article
Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1309, doi. 10.1002/ajmg.a.36899
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- Publication type:
- Article
FBN1 contributing to familial congenital diaphragmatic hernia.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 831, doi. 10.1002/ajmg.a.36960
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- Publication type:
- Article
Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.
- Published in:
- 2021
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- Publication type:
- corrected article