Found: 41
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Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2036, doi. 10.1002/ajmg.a.62739
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- Publication type:
- Article
Rodriguez Acrofacial Dysostosis Is Caused by Apparently De Novo Heterozygous Mutations in the SF3B4 Gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3133, doi. 10.1002/ajmg.a.37946
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- Publication type:
- Article
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 671, doi. 10.1002/ajmg.a.35747
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- Publication type:
- Article
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.
- Published in:
- Nature Genetics, 2011, v. 43, n. 4, p. 303, doi. 10.1038/ng.779
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- Publication type:
- Article
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
- Published in:
- Nature Genetics, 2009, v. 41, n. 3, p. 359, doi. 10.1038/ng.329
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- Publication type:
- Article
ELN gene triplication responsible for familial supravalvular aortic aneurysm.
- Published in:
- Cardiology in the Young, 2015, v. 25, n. 4, p. 712, doi. 10.1017/S1047951114000766
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- Publication type:
- Article
Increased Adipogenesis in Cultured Embryonic Chondrocytes and in Adult Bone Marrow of Dominant Negative Erg Transgenic Mice.
- Published in:
- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048656
- By:
- Publication type:
- Article
Correction to: Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
- Published in:
- 2019
- By:
- Publication type:
- corrected article
Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Insights into genotype-phenotype correlations in spinal muscular atrophy: A retrospective study of 103 patients.
- Published in:
- Muscle & Nerve, 2011, v. 43, n. 1, p. 26, doi. 10.1002/mus.21832
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- Publication type:
- Article
What's new in guidance? Scientific Impact Paper summary.
- Published in:
- Obstetrician & Gynaecologist, 2024, v. 26, n. 4, p. 175, doi. 10.1111/tog.12955
- By:
- Publication type:
- Article
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1010, doi. 10.1038/ejhg.2014.230
- By:
- Publication type:
- Article
Clinical Utility Gene Card for: 3-M syndrome - Update 2013.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 00, doi. 10.1038/ejhg.2013.156
- By:
- Publication type:
- Article
Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 7, p. 736, doi. 10.1038/ejhg.2012.251
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- Publication type:
- Article
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 494, doi. 10.1038/ejhg.2012.209
- By:
- Publication type:
- Article
Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 5, p. 584, doi. 10.1038/ejhg.2011.234
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- Publication type:
- Article
Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 11, p. 1198, doi. 10.1038/ejhg.2011.95
- By:
- Publication type:
- Article
Clinical utility gene card for: 3M syndrome.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 9, p. 1, doi. 10.1038/ejhg.2011.32
- By:
- Publication type:
- Article
Homozygosity for a null allele of COL3A1 results in recessive Ehlers–Danlos syndrome.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 11, p. 1411, doi. 10.1038/ejhg.2009.76
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- Publication type:
- Article
A new mutation in TP63 is associated with age-related pathology.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1115, doi. 10.1038/sj.ejhg.5201888
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- Publication type:
- Article
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disorders.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 549, doi. 10.1038/sj.ejhg.5201586
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- Publication type:
- Article
Clinical and molecular analysis of nine families with Adams-Oliver syndrome.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 6, p. 457, doi. 10.1038/sj.ejhg.5200980
- By:
- Publication type:
- Article
Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot).
- Published in:
- Journal of Hand Surgery (17531934), 2019, v. 44, n. 1, p. 80, doi. 10.1177/1753193418807375
- By:
- Publication type:
- Article
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report.
- Published in:
- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00901-6
- By:
- Publication type:
- Article
Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia.
- Published in:
- Frontiers in Physiology, 2019, p. 1, doi. 10.3389/fphys.2019.00623
- By:
- Publication type:
- Article
Rare dosage abnormalities flanking the SHOX gene.
- Published in:
- Egyptian Journal of Medical Human Genetics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s43042-021-00209-1
- By:
- Publication type:
- Article
'Something that helped the whole picture': Experiences of parents offered rapid prenatal exome sequencing in routine clinical care in the English National Health Service.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 4, p. 465, doi. 10.1002/pd.6537
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- Publication type:
- Article
Phenotypic variability of prenatally presenting Gaucher's disease.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 10, p. 1004, doi. 10.1002/pd.4171
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- Publication type:
- Article
Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 11, p. 1064, doi. 10.1002/pd.2338
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- Publication type:
- Article
Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 2, p. 187, doi. 10.1002/pd.2214
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- Publication type:
- Article
Prenatal phenotypic overlap of Costello syndrome and severe Noonan syndrome by tri-dimensional ultrasonography.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 4, p. 340, doi. 10.1002/pd.1412
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- Publication type:
- Article
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1246, doi. 10.1002/humu.23567
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- Publication type:
- Article
Mutation Update of the CLCN5 Gene Responsible for Dent Disease 1.
- Published in:
- Human Mutation, 2015, v. 36, n. 8, p. 743, doi. 10.1002/humu.22804
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- Publication type:
- Article
Delineation of EFTUD2 Haploinsufficiency-Related Phenotypes Through a Series of 36 Patients.
- Published in:
- Human Mutation, 2014, v. 35, n. 4, p. 478, doi. 10.1002/humu.22517
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- Publication type:
- Article
Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 587, doi. 10.1002/humu.22275
- By:
- Publication type:
- Article
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E404, doi. 10.1002/humu.20886
- By:
- Publication type:
- Article
Heterogeneity of NSD1 alterations in 116 patients with Sotos syndrome.
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1098, doi. 10.1002/humu.20568
- By:
- Publication type:
- Article
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
- By:
- Publication type:
- Article
Haematological chimerism masquerading as disorder of sex development.
- Published in:
- Clinical Endocrinology, 2020, v. 92, n. 5, p. 487, doi. 10.1111/cen.14160
- By:
- Publication type:
- Article