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Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation.
- Published in:
- Human Genetics, 2005, v. 118, n. 3/4, p. 477, doi. 10.1007/s00439-005-0074-0
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- Publication type:
- Article
A case report of two brothers with ATR-X syndrome due to low maternal frequency of somatic mosaicism for an intragenic deletion in the ATRX.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 7, p. 408, doi. 10.1038/jhg.2014.45
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- Article
Cardiac features of Noonan syndrome in Japanese patients.
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- Cardiology in the Young, 2023, v. 33, n. 4, p. 564, doi. 10.1017/S104795112200124X
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- Article
Cardiac features in a patient with erythrokeratodermia cardiomyopathy syndrome.
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- Cardiology in the Young, 2022, v. 32, n. 6, p. 993, doi. 10.1017/S1047951121004108
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- Publication type:
- Article
Electrocardiographic Changes with Age in Japanese Patients with Noonan Syndrome.
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- Journal of Cardiovascular Development & Disease (JCDD), 2024, v. 11, n. 1, p. 10, doi. 10.3390/jcdd11010010
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- Publication type:
- Article
HRAS mutants identified in Costello syndrome patients can induce cellular senescence: possible implications for the pathogenesis of Costello syndrome.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 10, p. 707, doi. 10.1038/jhg.2011.85
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- Publication type:
- Article
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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- Publication type:
- Article
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.
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- Journal of Human Genetics, 2010, v. 55, n. 12, p. 801, doi. 10.1038/jhg.2010.116
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- Publication type:
- Article
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 5, p. 304, doi. 10.1038/jhg.2009.30
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- Publication type:
- Article
Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.
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- Journal of Human Genetics, 2008, v. 53, n. 9, p. 834, doi. 10.1007/s10038-008-0320-0
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- Publication type:
- Article
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.
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- Journal of Human Genetics, 2005, v. 50, n. 4, p. 192, doi. 10.1007/s10038-005-0239-7
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- Publication type:
- Article
Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature.
- Published in:
- Journal of Human Genetics, 1999, v. 44, n. 4, p. 219, doi. 10.1007/s100380050147
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- Publication type:
- Article
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation DNA sequencing.
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- Nucleic Acids Research, 2024, v. 52, n. 1, p. 114, doi. 10.1093/nar/gkad1140
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- Publication type:
- Article
Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).
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- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1488, doi. 10.1038/ejhg.2015.13
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- Publication type:
- Article
Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia.
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- Psychiatry & Clinical Neurosciences, 1999, v. 53, n. 3, p. 425, doi. 10.1046/j.1440-1819.1999.00569.x
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- Article
Recurrent de novo MAPK8IP3 variants cause neurological phenotypes.
- Published in:
- 2019
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- Publication type:
- journal article
Pre‐set estimation‐based in‐silico silhouette‐based methodology for improving the robustness to viewing direction difference for assisting forensic gait analysis.
- Published in:
- Journal of Forensic Sciences, 2023, v. 68, n. 2, p. 470, doi. 10.1111/1556-4029.15214
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- Publication type:
- Article
Submucosal dissection to close wide cleft palate with folded mucoperiosteum for bilateral cleft lip and palate with popliteal pterygium syndrome.
- Published in:
- 2023
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- Publication type:
- Case Study
Mosaicism of a Truncating Variant of CASK Causes Congenital Heart Disease and Neurodevelopmental Disorder.
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 6, p. 517, doi. 10.1159/000524375
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- Publication type:
- 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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- Publication type:
- Article
Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
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- Molecular Syndromology, 2022, v. 13, n. 1, p. 75, doi. 10.1159/000517977
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- Publication type:
- 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.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 2, p. 127, doi. 10.1159/000513224
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- Publication type:
- Article
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes.
- Published in:
- Nature Genetics, 2008, v. 40, n. 2, p. 237, doi. 10.1038/ng.2007.56
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- Publication type:
- Article
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.
- Published in:
- Nature Genetics, 2006, v. 38, n. 3, p. 294, doi. 10.1038/ng1749
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- Publication type:
- Article
Germline mutations in HRAS proto-oncogene cause Costello syndrome.
- Published in:
- Nature Genetics, 2005, v. 37, n. 10, p. 1038, doi. 10.1038/ng1641
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- Publication type:
- Article
Congenital Omphalocele and Polyhydramnios: A Study of 52 Cases.
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- Fetal Diagnosis & Therapy, 2011, v. 30, n. 3, p. 184, doi. 10.1159/000327542
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- Publication type:
- Article
CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.
- Published in:
- eLife, 2017, p. 1, doi. 10.7554/eLife.21114.001
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- Publication type:
- Article
A Case of MECP2 Duplication Syndrome with Gonadotropin-Dependent Precocious Puberty.
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- Hormone Research in Paediatrics, 2017, v. 87, n. 4, p. 1, doi. 10.1159/000449222
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- Publication type:
- Article
Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.
- Published in:
- Clinical Epigenetics, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13148-019-0633-1
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- Publication type:
- Article
De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 3, doi. 10.1111/cge.14133
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- Publication type:
- 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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- Publication type:
- 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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- Publication type:
- Article
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.
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- Journal of Neurology, 2014, v. 261, n. 4, p. 752, doi. 10.1007/s00415-014-7263-5
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- Publication type:
- Article
A novel method for isolating lymphatic endothelial cells from lymphatic malformations and detecting PIK3CA somatic mutation in these isolated cells.
- Published in:
- Surgery Today, 2021, v. 51, n. 3, p. 439, doi. 10.1007/s00595-020-02122-3
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- Publication type:
- 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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- Publication type:
- Article
A case of prenatal chronic intestinal pseudo‐obstruction associated with Leigh syndrome.
- Published in:
- 2018
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- Publication type:
- Case Study
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 1, p. 5, doi. 10.1002/ccr3.738
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- Publication type:
- Article
A morphometric study to establish criteria for fetal and neonatal cerebellar hypoplasia: A special emphasis on trisomy 18.
- Published in:
- Pathology International, 2016, v. 66, n. 1, p. 15, doi. 10.1111/pin.12371
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- Publication type:
- 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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- Publication type:
- Article
Whole-exome sequencing reveals the subclonal expression of NUP214-ABL1 fusion gene in T-cell acute lymphoblastic leukemia.
- Published in:
- 2020
- By:
- Publication type:
- case study
Hemoglobin beta Kanagawa [c.443A>C; p.(Ter148Serext*21)]: A novel β-globin gene mutation causing dominantly inherited β-thalassemia.
- Published in:
- 2019
- By:
- Publication type:
- case study
Establishment and characterization of a novel MDM2/MYCN-co-amplified neuroblastoma cell line, NBN-SHIM, established from a late recurrent stage MS tumor.
- Published in:
- Human Cell, 2024, v. 37, n. 5, p. 1602, doi. 10.1007/s13577-024-01106-6
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- Publication type:
- Article
Endocrine and Radiological Studies in Patients with Molecularly Confirmed CHARGE Syndrome.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2008, v. 93, n. 3, p. 920, doi. 10.1210/jc.2007-1419
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- Publication type:
- Article
A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy.
- Published in:
- 2012
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- Publication type:
- journal article
A case of Sjögren-Larsson syndrome with minimal MR imaging findings facilitated by proton spectroscopy.
- Published in:
- 2012
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- Publication type:
- Report
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
- Published in:
- Human Genetics, 2019, v. 138, n. 1, p. 21, doi. 10.1007/s00439-018-1951-7
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- Publication type:
- Article
Infantile hepatic hemangioma and hepatic mesenchymal hamartoma in an infant associated with placental mesenchymal dysplasia: a case report.
- Published in:
- 2022
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- Publication type:
- Case Study
Wide-field time-resolved luminescence imaging and spectroscopy to decipher obliterated documents in forensic science.
- Published in:
- Optical Engineering, 2016, v. 55, n. 1, p. 1, doi. 10.1117/1.OE.55.1.014101
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- Publication type:
- Article
Cantú syndrome with novel pathogenic variant in nucleotide‐binding domain 1 of ABCC9.
- Published in:
- 2020
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- Publication type:
- Case Study
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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- Publication type:
- Article