Found: 30
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Fetal segmental spinal dysgenesis and unusual segmental agenesis of the anterior spinal artery.
- Published in:
- Child's Nervous System, 2016, v. 32, n. 8, p. 1537, doi. 10.1007/s00381-016-3054-x
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- Publication type:
- Article
High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor.
- Published in:
- Human Genetics, 2007, v. 122, n. 2, p. 117, doi. 10.1007/s00439-007-0386-3
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- Publication type:
- Article
A century later Farabee has his mutation.
- Published in:
- 2007
- By:
- Publication type:
- Correction notice
A century later Farabee has his mutation.
- Published in:
- 2005
- By:
- Publication type:
- Letter
Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41651-6
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- Publication type:
- Article
Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer.
- Published in:
- JAMA: Journal of the American Medical Association, 2007, v. 297, n. 21, p. 2360, doi. 10.1001/jama.297.21.2360
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- Publication type:
- Article
Al‐Gazali Skeletal Dysplasia Constitutes the Lethal End of ADAMTSL2‐Related Disorders.
- Published in:
- Journal of Bone & Mineral Research, 2023, v. 38, n. 5, p. 692, doi. 10.1002/jbmr.4799
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- Publication type:
- Article
Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1640, doi. 10.1038/ejhg.2015.38
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- Publication type:
- Article
Meconium ileus in a Lebanese family secondary to mutations in the GUCY2C gene.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 990, doi. 10.1038/ejhg.2014.236
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- Publication type:
- Article
Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.
- Published in:
- Prenatal Diagnosis, 2022, v. 42, n. 12, p. 1514, doi. 10.1002/pd.6232
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- Publication type:
- Article
Etiologies and outcomes of prenatally diagnosed hyperechogenic kidneys.
- Published in:
- Prenatal Diagnosis, 2021, v. 41, n. 4, p. 465, doi. 10.1002/pd.5883
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- Publication type:
- Article
Microarray results as an indicator of sexual abuse.
- Published in:
- Paediatrics & Child Health (1205-7088), 2020, v. 25, n. 3, p. 134, doi. 10.1093/pch/pxz034
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- Publication type:
- Article
Brachydactyly A-1 mutations restricted to the central region of the N-terminal active fragment of Indian Hedgehog.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1112, doi. 10.1038/ejhg.2009.18
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- Publication type:
- Article
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
- Published in:
- Nature Genetics, 2012, v. 44, n. 8, p. 934, doi. 10.1038/ng.2331
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- Publication type:
- Article
Broad spectrum of neuropsychiatric phenotypes associated with white matter disease in PTEN hamartoma tumor syndrome.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 1, p. 101, doi. 10.1002/ajmg.b.32610
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- Publication type:
- Article
Skeletal Dysplasias: What Every Bone Health Clinician Needs to Know.
- Published in:
- Current Osteoporosis Reports, 2017, v. 15, n. 5, p. 419, doi. 10.1007/s11914-017-0392-x
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- Publication type:
- Article
The defining DNA methylation signature of Floating-Harbor Syndrome.
- Published in:
- Scientific Reports, 2016, p. 38803, doi. 10.1038/srep38803
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- Publication type:
- Article
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-63
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- Publication type:
- Article
The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.
- Published in:
- 2013
- By:
- Publication type:
- journal article
RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Author Correction: Specific heterozygous variants in MGP lead to endoplasmic reticulum stress and cause spondyloepiphyseal dysplasia.
- Published in:
- Nature Communications, 2024, v. 15, p. 1, doi. 10.1038/s41467-023-41651-6
- By:
- Publication type:
- Article
Identification of Novel Mutations Confirms PDE4D as a Major Gene Causing Acrodysostosis.
- Published in:
- Human Mutation, 2013, v. 34, n. 4, p. 667, doi. 10.1002/humu.22290
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- Publication type:
- Article
Identification of Novel Mutations Confirms Pde4d as a Major Gene Causing Acrodysostosis.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 97, doi. 10.1002/humu.22222
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- Publication type:
- Article
Mutations in GDF5 presenting as semidominant brachydactyly A1.
- Published in:
- Human Mutation, 2010, v. 31, n. 10, p. 1155, doi. 10.1002/humu.21338
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- Publication type:
- Article
Molecular characterization of 13 patients with PIK3CA‐related overgrowth spectrum using a targeted deep sequencing approach.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 3, p. 1, doi. 10.1002/ajmg.a.63466
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- Publication type:
- Article
Diagnostic clarity of exome sequencing following negative comprehensive panel testing in the neonatal intensive care unit.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1688, doi. 10.1002/ajmg.a.38838
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- Publication type:
- Article
Benchmarking outcomes in the Neonatal Intensive Care Unit: Cytogenetic and molecular diagnostic rates in a retrospective cohort.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 7, p. 1839, doi. 10.1002/ajmg.a.38250
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- Publication type:
- Article
Relationships between Head Circumference, Brain Volume and Cognition in Children with Prenatal Alcohol Exposure.
- Published in:
- PLoS ONE, 2016, v. 11, n. 2, p. 1, doi. 10.1371/journal.pone.0150370
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- Publication type:
- Article
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit.
- Published in:
- 2016
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- Publication type:
- journal article
Noninvasive prenatal testing from cell-free DNA.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2014, v. 186, n. 12, p. 934, doi. 10.1503/cmaj.131551
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- Publication type:
- Article