Found: 18
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Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.
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- Journal of Human Genetics, 2011, v. 56, n. 2, p. 110, doi. 10.1038/jhg.2010.129
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- Article
Sanfilippo type B syndrome: five patients with an R565P homozygous mutation in the α- N-acetylglucosaminidase gene from the Okinawa islands in Japan.
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- Journal of Human Genetics, 2005, v. 50, n. 7, p. 357, doi. 10.1007/s10038-005-0258-4
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- Article
Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2826, doi. 10.1002/ajmg.a.38411
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- Article
Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 908, doi. 10.1002/ajmg.a.37496
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- Article
Progressive hip joint subluxation in Saul-Wilson syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2834, doi. 10.1002/ajmg.a.37278
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- Article
Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
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- Human Genetics, 2012, v. 131, n. 1, p. 99, doi. 10.1007/s00439-011-1047-0
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- Article
Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.
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- Pediatric Nephrology, 2024, v. 39, n. 8, p. 2351, doi. 10.1007/s00467-024-06347-z
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- Article
Mild prominence of the Sylvian fissure in a Bainbridge‐Ropers syndrome patient with a novel frameshift variant in <italic>ASXL3</italic>.
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- Clinical Case Reports, 2018, v. 6, n. 2, p. 330, doi. 10.1002/ccr3.1361
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- Article
An unusual case of oral surgical management in a patient with isovaleric acidemia and schizophrenia: A case report.
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- Biomedical Reports, 2022, v. 17, n. 2, p. N.PAG, doi. 10.3892/br.2022.1547
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- Article
Novel alternative splicing of human faciogenital dysplasia 1 gene.
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- Congenital Anomalies, 2004, v. 44, n. 3, p. 137, doi. 10.1111/j.1741-4520.2004.00026.x
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- Article
Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI.
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- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00187-9
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- Article
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients: clinical and autopsy data.
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- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0098-y
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- Article
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformation.
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- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0053-y
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- Article
impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.
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- Drug Design, Development & Therapy, 2015, v. 9, p. 1937, doi. 10.2147/DDDT.S68562
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- Article
Germline mutation of CBL is associated with moyamoya disease in a child with juvenile myelomonocytic leukemia and Noonan syndrome-like disorder.
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- Pediatric Blood & Cancer, 2015, v. 62, n. 3, p. 542, doi. 10.1002/pbc.25271
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- Article
Heterozygous C-propeptide mutations in COL1A1: Osteogenesis imperfecta type IIC and dense bone variant.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2269, doi. 10.1002/ajmg.a.34152
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- Article
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.
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- Tohoku Journal of Experimental Medicine, 2015, v. 236, n. 2, p. 103, doi. 10.1620/tjem.236.103
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- Article
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH).
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- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0181791
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- Article