Found: 35
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Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
- Published in:
- Nucleic Acids Research, 2024, v. 52, n. 1, p. 114, doi. 10.1093/nar/gkad1140
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- Article
A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variant.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 94, doi. 10.1002/ajmg.a.63386
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- Article
PHACES‐like syndrome with TMEM260 compound heterozygous variants.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2215, doi. 10.1002/ajmg.a.63245
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- Article
A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 8, p. 2245, doi. 10.1002/ajmg.a.63229
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- Article
Genetic and clinical features of pediatric-onset hereditary spastic paraplegia: a single-center study in Japan.
- Published in:
- Frontiers in Neurology, 2023, p. 1, doi. 10.3389/fneur.2023.1085228
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- Article
Complex congenital cardiovascular anomaly in a patient with AGO1‐associated disorder.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 882, doi. 10.1002/ajmg.a.63089
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- Article
A novel variant of ARPC4‐related neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 893, doi. 10.1002/ajmg.a.63082
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- Article
Novel COL2A1 variants in Japanese patients with spondyloepiphyseal dysplasia congenita.
- Published in:
- Human Genome Variation, 2022, v. 9, n. 1, p. 1, doi. 10.1038/s41439-022-00193-x
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- Article
Further delineation of SET‐related intellectual disability syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 5, p. 1595, doi. 10.1002/ajmg.a.62681
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- Article
Delineation of a Phenotype Caused by a KAT6B Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar Syndromes.
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- Molecular Syndromology, 2022, v. 13, n. 3, p. 221, doi. 10.1159/000520134
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- Article
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 335, doi. 10.1111/cge.14103
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- Article
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 75, doi. 10.1159/000517977
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- Article
Siblings with vascular Ehlers‐Danlos syndrome inherited via maternal mosaicism.
- Published in:
- Congenital Anomalies, 2021, v. 61, n. 3, p. 101, doi. 10.1111/cga.12408
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- Article
A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4.
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- Molecular Syndromology, 2021, v. 12, n. 2, p. 127, doi. 10.1159/000513224
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- Article
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT.
- Published in:
- PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0243980
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- Article
Prenatal diagnosis of Fraser syndrome caused by novel variants of FREM2.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00119-5
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- Article
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 10, p. 2333, doi. 10.1002/ajmg.a.61793
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- Article
Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9.
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- 2020
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- Case Study
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. N.PAG, doi. 10.1038/s41439-020-00116-8
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- Article
A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0109-z
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- Article
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0102-6
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- Article
A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED12.
- Published in:
- Congenital Anomalies, 2020, v. 60, n. 3, p. 91, doi. 10.1111/cga.12350
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- Article
An efficient genetic test flow for multiple congenital anomalies and intellectual disability.
- Published in:
- Pediatrics International, 2020, v. 62, n. 5, p. 556, doi. 10.1111/ped.14159
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- Article
Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome.
- Published in:
- Human Genome Variation, 2020, v. 7, n. 1, p. 1, doi. 10.1038/s41439-020-0090-6
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- Article
Somatic mosaicism of a heterogeneous mutation of ACTA1 in nemaline myopathy.
- Published in:
- 2019
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- Publication type:
- Case Study
Novel USP9X variants in two patients with X-linked intellectual disability.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0081-7
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- Article
A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0071-9
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- Article
A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 6, p. 713, doi. 10.1111/cge.13530
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- Article
Discordant phenotype caused by CASK mutation in siblings with NF1.
- Published in:
- Human Genome Variation, 2019, v. 6, n. 1, p. N.PAG, doi. 10.1038/s41439-019-0051-0
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- Article
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.
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- Congenital Anomalies, 2018, v. 58, n. 6, p. 188, doi. 10.1111/cga.12273
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- Article
Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1.
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- Congenital Anomalies, 2018, v. 58, n. 6, p. 191, doi. 10.1111/cga.12277
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- Article
Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis.
- Published in:
- Congenital Anomalies, 2018, v. 58, n. 4, p. 145, doi. 10.1111/cga.12258
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- Article
Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 429, doi. 10.1002/mgg3.289
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- Article
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2223, doi. 10.1002/ajmg.a.37135
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- Article
Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1349, doi. 10.1002/ajmg.a.37002
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- Publication type:
- Article