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Mapping genomic deletions down to the base: a quantitative copy number scanning approach used to characterise and clone the breakpoints of a recurrent 7p14.2p15.3 deletion.
- Published in:
- Human Genetics, 2004, v. 115, n. 6, p. 459, doi. 10.1007/s00439-004-1174-y
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- Publication type:
- Article
Colonic fermentation of ispaghula, wheat bran, glucose, and albumin to short-chain fatty acids and ammonia evaluated in vitro in 50 subjects.
- Published in:
- 1992
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- Publication type:
- journal article
Fracture Rates and Fracture Risk in Patients With Marfan Syndrome: A Nationwide Register‐Based Cohort Study.
- Published in:
- Journal of Bone & Mineral Research, 2021, v. 36, n. 5, p. 901, doi. 10.1002/jbmr.4258
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- Publication type:
- Article
Bone Geometry, Density, and Microarchitecture in the Distal Radius and Tibia in Adults With Marfan Syndrome Assessed by HR‐pQCT.
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- Journal of Bone & Mineral Research, 2020, v. 35, n. 12, p. 2335, doi. 10.1002/jbmr.4138
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- Publication type:
- Article
Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.
- Published in:
- 2019
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- Publication type:
- journal article
Biomechanical properties of the patellar tendon in children with heritable connective tissue disorders.
- Published in:
- 2018
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- Publication type:
- journal article
Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.
- Published in:
- Molecular Syndromology, 2020, v. 11, n. 2, p. 83, doi. 10.1159/000506384
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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
Endocrine morbidity in neurofibromatosis 1: a nationwide, register-based cohort study.
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- European Journal of Endocrinology, 2023, v. 189, n. 2, p. 190, doi. 10.1093/ejendo/lvad101
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- Publication type:
- Article
Facial Asymmetry in Nonsyndromic and Muenke Syndrome–Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans.
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- Cleft Palate Craniofacial Journal, 2021, v. 58, n. 6, p. 687, doi. 10.1177/1055665620959983
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- Publication type:
- Article
Spatially Detailed 3D Quantification of Improved Facial Symmetry After Surgery in Children With Unicoronal Synostosis.
- Published in:
- Cleft Palate Craniofacial Journal, 2019, v. 56, n. 7, p. 918, doi. 10.1177/1055665618821821
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- Publication type:
- Article
Facial Asymmetry in Children with Unicoronal Synostosis Who Have Undergone Craniofacial Reconstruction in Infancy.
- Published in:
- Cleft Palate Craniofacial Journal, 2016, v. 53, n. 4, p. 385, doi. 10.1597/15-089
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- Publication type:
- Article
Novel biallelic PISD missense variants cause spondyloepimetaphyseal dysplasia with disproportionate short stature and fragmented mitochondrial morphology.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 3, p. 360, doi. 10.1111/cge.14549
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- Publication type:
- Article
Description of a family with X‐linked oculo‐auriculo‐vertebral spectrum associated with polyalanine tract expansion in ZIC3.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 4, p. 384, doi. 10.1111/cge.13811
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- Publication type:
- Article
Primrose syndrome: Characterization of the phenotype in 42 patients.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 6, p. 890, doi. 10.1111/cge.13749
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- Publication type:
- Article
Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound.
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- Clinical Case Reports, 2017, v. 5, n. 7, p. 1072, doi. 10.1002/ccr3.784
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- Publication type:
- Article
Identification of Six Novel <i>PTH1R</i> Mutations in Families with a History of Primary Failure of Tooth Eruption.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074601
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- Publication type:
- Article
Employment, occupation, and income in adults with neurofibromatosis 1 in Denmark: a population- and register-based cohort study.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02965-2
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- Publication type:
- Article
Prevalence, incidence, and age at diagnosis in Marfan Syndrome.
- Published in:
- 2015
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- Publication type:
- journal article
The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients.
- Published in:
- 2014
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- Publication type:
- Journal Article
Aortic events in a nationwide Marfan syndrome cohort.
- Published in:
- Clinical Research in Cardiology, 2017, v. 106, n. 2, p. 105, doi. 10.1007/s00392-016-1028-3
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- Publication type:
- Article
Analysis of 65 tuberous sclerosis complex (TSC) patients by TSC2 DGGE, TSC1/ TSC2 MLPA, and TSC1 long-range PCR sequencing, and report of 28 novel mutations.
- Published in:
- Human Mutation, 2005, v. 26, n. 4, p. 374, doi. 10.1002/humu.20227
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- Publication type:
- Article
Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 237, doi. 10.1002/humu.22224
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- Publication type:
- Article
Validity of First-Time Diagnoses of Inherited Ichthyosis in the Danish National Patient Registry and the Danish Pathology Registry.
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- Clinical Epidemiology, 2020, v. 12, p. 651, doi. 10.2147/CLEP.S232956
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- Publication type:
- Article
Novel Alu insertion in the ZEB2 gene causing Mowat‐Wilson syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 8, p. 1, doi. 10.1002/ajmg.a.63581
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- Publication type:
- Article
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 6, p. 1667, doi. 10.1002/ajmg.a.62673
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- Publication type:
- Article
Psychiatric disorders in individuals with neurofibromatosis 1 in Denmark: A nationwide register‐based cohort study.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3706, doi. 10.1002/ajmg.a.62436
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- Publication type:
- Article
Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study.
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- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 7, p. 1704, doi. 10.1002/ajmg.a.61627
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- Publication type:
- Article
Monozygotic twins with a de novo 0.32 Mb 16q24.3 deletion, including TUBB3 presenting with developmental delay and mild facial dysmorphism but without overt brain malformation.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 11, p. 2731, doi. 10.1002/ajmg.a.37227
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- Publication type:
- Article
Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability.
- Published in:
- 2012
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- Publication type:
- Other
Non-aortic cardiovascular disease in Marfan syndrome: a nationwide epidemiological study.
- Published in:
- Clinical Research in Cardiology, 2021, v. 110, n. 7, p. 1106, doi. 10.1007/s00392-021-01858-3
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- Publication type:
- Article
Prevalence and Patient Characteristics of Ectodermal Dysplasias in Denmark.
- Published in:
- JAMA Dermatology, 2024, v. 160, n. 5, p. 502, doi. 10.1001/jamadermatol.2024.0036
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- Publication type:
- Article