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Delivery of a national prenatal exome sequencing service in England: a mixed methods study exploring healthcare professionals' views and experiences.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1401705
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- Publication type:
- Article
CLOVES Syndrome.
- Published in:
- JAMA Dermatology, 2023, v. 159, n. 6, p. 659, doi. 10.1001/jamadermatol.2022.6180
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- Publication type:
- Article
Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6601, doi. 10.3390/ijms24076601
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- Publication type:
- Article
SHORT syndrome with microcephaly and developmental delay.
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- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 3, p. 850, doi. 10.1002/ajmg.a.63078
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- Publication type:
- Article
The Genetic Landscape of Complex Childhood‐Onset Hyperkinetic Movement Disorders.
- Published in:
- Movement Disorders, 2022, v. 37, n. 11, p. 2197, doi. 10.1002/mds.29182
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- Publication type:
- Article
Intravenous Lidocaine for Treatment of Chronic Pain: A Retrospective Cohort Study.
- Published in:
- Journal of Pain Research, 2022, v. 15, p. 3459, doi. 10.2147/JPR.S379208
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- Publication type:
- Article
Gene–disease relationship evidence: A clinical perspective focusing on ultra‐rare diseases.
- Published in:
- Human Mutation, 2022, v. 43, n. 8, p. 1082, doi. 10.1002/humu.24367
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- Publication type:
- Article
Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1498, doi. 10.1002/ajmg.a.61191
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- Publication type:
- Article
CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism.
- Published in:
- 2017
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- Publication type:
- journal article
Recurrent GNAO1 Mutations Associated With Developmental Delay and a Movement Disorder.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 14, p. 1598, doi. 10.1177/0883073816666474
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- Publication type:
- Article
Trisomy 4 mosaicism: Delineation of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1040, doi. 10.1002/ajmg.a.37522
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- Publication type:
- Article
Congenital thrombocytopenia in a neonate with an interstitial microdeletion of 3q26.2q26.31.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 504, doi. 10.1002/ajmg.a.37451
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- Publication type:
- Article
Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 2, p. 510, doi. 10.1002/ajmg.a.37453
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- Publication type:
- Article
Clinical utility gene card for: Proximal spinal muscular atrophy (SMA) - update 2015.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1, doi. 10.1038/ejhg.2015.90
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- Publication type:
- Article
Etiology and pathogenesis of robin sequence in a large Dutch cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 1983, doi. 10.1002/ajmg.a.37154
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- Publication type:
- Article
Atrophoderma Vermiculatum: A Cutaneous Feature of Loeys-Dietz Syndrome.
- Published in:
- JAMA Dermatology, 2015, v. 151, n. 6, p. 675, doi. 10.1001/jamadermatol.2014.4900
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- Publication type:
- Article
Opposite effects on facial morphology due to gene dosage sensitivity.
- Published in:
- Human Genetics, 2014, v. 133, n. 9, p. 1117, doi. 10.1007/s00439-014-1455-z
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- Publication type:
- Article
Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum.
- Published in:
- Human Mutation, 2014, v. 35, n. 5, p. 521, doi. 10.1002/humu.22538
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- Publication type:
- Article
Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 254, doi. 10.1002/ajmg.a.35672
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- Publication type:
- Article
Clinical utility gene card for: proximal spinal muscular atrophy.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 1, doi. 10.1038/ejhg.2012.62
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- Publication type:
- Article
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study.
- Published in:
- Human Mutation, 2012, v. 33, n. 3, p. 561, doi. 10.1002/humu.22016
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- Publication type:
- Article
De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome.
- Published in:
- Nature Genetics, 2011, v. 43, n. 8, p. 729, doi. 10.1038/ng.868
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- Publication type:
- Article
Bohring-Opitz (Oberklaid-Danks) syndrome: clinical study, review of the literature, and discussion of possible pathogenesis.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 5, p. 513, doi. 10.1038/ejhg.2010.234
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- Publication type:
- Article
The clinical spectrum of complete FBN1 allele deletions.
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- European Journal of Human Genetics, 2011, v. 19, n. 3, p. 247, doi. 10.1038/ejhg.2010.174
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- Publication type:
- Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
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- European Journal of Human Genetics, 2009, v. 17, n. 12, p. 1560, doi. 10.1038/ejhg.2009.75
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- Publication type:
- Article
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
- Published in:
- 2009
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- Publication type:
- Correction notice
Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.
- Published in:
- Brain: A Journal of Neurology, 2007, v. 130, n. 9, p. 2258, doi. 10.1093/brain/awm188
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- Publication type:
- Article
Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.
- Published in:
- Human Genetics, 2004, v. 114, n. 3, p. 284, doi. 10.1007/s00439-003-1047-9
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- Publication type:
- Article
Best practice guidelines for molecular analysis in spinal muscular atrophy.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 7, p. 484, doi. 10.1038/sj.ejhg.5200667
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- Publication type:
- Article
SMA carrier testing – validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 2, p. 79, doi. 10.1038/sj.ejhg.5200404
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- Publication type:
- Article
Characterization of the Split Hand/Split Foot Malformation Locus SHFM1 at 7Q21.3–Q22.1 and Analysis of a Candidate Gene for Its Expression during Limb Development.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 5, p. 571, doi. 10.1093/hmg/5.5.571
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- Publication type:
- Article
Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers—Danlos syndrome type IV.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 10, p. 1901
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- Publication type:
- Article
Congenital hepatic fibrosis in autosomal-dominant polycystic kidney disease.
- Published in:
- Kidney International, 1990, v. 38, n. 5, p. 880, doi. 10.1038/ki.1990.286
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- Publication type:
- Article