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Earth System Model Evaluation Tool (ESMValTool) v2.0 - diagnostics for extreme events, regional and impact evaluation and analysis of Earth system models in CMIP.
- Published in:
- 2020
- By:
- Publication type:
- Abstract
Earth System Model Evaluation Tool (ESMValTool) v2.0 - diagnostics for emergent constraints and future projections from Earth system models in CMIP.
- Published in:
- Geoscientific Model Development Discussions, 2020, p. 1, doi. 10.5194/gmd-2020-60
- By:
- Publication type:
- Article
A pilot study of the possible role of familial defects in anticoagulation as a cause for terminal limb reduction malformations.
- Published in:
- Clinical Genetics, 2000, v. 57, n. 3, p. 197, doi. 10.1034/j.1399-0004.2000.570305.x
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- Publication type:
- Article
Perceptions of the outcome of orthopedic surgery in patients with chondrodysplasias.
- Published in:
- Clinical Genetics, 1999, v. 56, n. 6, p. 434, doi. 10.1034/j.1399-0004.1999.560605.x
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- Publication type:
- Article
Physician knowledge and attitudes towards molecular genetic (DNA) testing of their patients.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 6, p. 447, doi. 10.1111/j.1399-0004.1998.tb02593.x
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- Publication type:
- Article
New perspectives on the collective risk of extratropical cyclones.
- Published in:
- Quarterly Journal of the Royal Meteorological Society, 2016, v. 142, n. 694, p. 243, doi. 10.1002/qj.2649
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- Publication type:
- Article
Personal journeys to and in human genetics and dysmorphology.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63514
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- Publication type:
- Article
Learning the importance of double diagnosis.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 2, p. 568, doi. 10.1002/ajmg.a.38018
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- Publication type:
- Article
The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 5, p. 1102, doi. 10.1002/ajmg.a.36456
- By:
- Publication type:
- Article
Beyond Gómez-López-Hernández syndrome: Recurring phenotypic themes in rhombencephalosynapsis.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2393, doi. 10.1002/ajmg.a.35561
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- Publication type:
- Article
Assessment of the early risks of chorionic villus sampling.
- Published in:
- Canadian Medical Association Journal (CMAJ), 1986, v. 134, n. 7, p. 753
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- Publication type:
- Article
Horseshoe lung and facio‐auriculo‐vertebral sequence: A previously unreported association.
- Published in:
- Pediatric Pulmonology, 2006, v. 41, n. 6, p. 592, doi. 10.1002/ppul.20404
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- Publication type:
- Article
Non-lethal arthrogryposis multiplex congenita presenting with cystic hygroma at 13 weeks gestational age.
- Published in:
- Prenatal Diagnosis, 1999, v. 19, n. 10, p. 966, doi. 10.1002/(SICI)1097-0223(199910)19:10<966::AID-PD683>3.0.CO;2-J
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- Publication type:
- Article
Minute chromatin structures in cells of amniotic fluid-an interpretative dilemma.
- Published in:
- 1994
- By:
- Publication type:
- journal article
False-positive and false-negative findings on chorionic villus sampling.
- Published in:
- Prenatal Diagnosis, 1988, v. 8, n. 6, p. 475, doi. 10.1002/pd.1970080613
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- Publication type:
- Article
46,XX/46,XY chromosome complement in amniotic fluid cell culture followed by the birth of a normal female child.
- Published in:
- Prenatal Diagnosis, 1982, v. 2, n. 2, p. 127, doi. 10.1002/pd.1970020209
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- Publication type:
- Article
A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved.
- Published in:
- Human Genetics, 2002, v. 111, n. 4/5, p. 368, doi. 10.1007/s00439-002-0815-2
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- Publication type:
- Article
Development and Evaluation of a Decision Aid About Prenatal Testing for Women of Advanced Maternal Age.
- Published in:
- Journal of Genetic Counseling, 1999, v. 8, n. 4, p. 217, doi. 10.1023/A:1022998415890
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- Publication type:
- Article
A study of institutionalized mentally retarded patients in Manitoba. I: Classification and preventability.
- Published in:
- 1980
- By:
- Publication type:
- journal article
Low rate of adequate folic acid supplementation in well-educated women of high socioeconomic status attending a genetics clinic.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2001, v. 164, n. 8, p. 1149
- By:
- Publication type:
- Article
Earth System Model Evaluation Tool (ESMValTool) v2.0 – diagnostics for extreme events, regional and impact evaluation, and analysis of Earth system models in CMIP.
- Published in:
- Geoscientific Model Development, 2021, v. 14, n. 6, p. 3159, doi. 10.5194/gmd-14-3159-2021
- By:
- Publication type:
- Article
Earth System Model Evaluation Tool (ESMValTool) v2.0 – diagnostics for emergent constraints and future projections from Earth system models in CMIP.
- Published in:
- Geoscientific Model Development, 2020, v. 13, n. 9, p. 4205, doi. 10.5194/gmd-13-4205-2020
- By:
- Publication type:
- Article
The Role of Women's Relationships With Their Partners in Their Adjustment Following Prenatal Genetic Testing.
- Published in:
- Journal of Applied Social Psychology, 2008, v. 38, n. 2, p. 482, doi. 10.1111/j.1559-1816.2007.00314.x
- By:
- Publication type:
- Article
Evaluation and quality control for seasonal forecasts of the Copernicus Climate Change Service.
- Published in:
- Geophysical Research Abstracts, 2019, v. 21, p. 1
- By:
- Publication type:
- Article
Evaluation and Quality Control for the Copernicus Seasonal Forecasts and Products.
- Published in:
- Geophysical Research Abstracts, 2019, v. 21, p. 1
- By:
- Publication type:
- Article
X-linked VACTERL with hydrocephalus syndrome: Further delineation of the phenotype caused by FANCB mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2370, doi. 10.1002/ajmg.a.33913
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- Publication type:
- Article
Limb-body wall defect. Is there a defensible hypothesis and can it explain all the associated anomalies?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 9, p. 2045, doi. 10.1002/ajmg.a.34161
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- Publication type:
- Article
Human equivalent of mouse disorganization: Has the case been made?
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 4, p. 792, doi. 10.1002/ajmg.a.33910
- By:
- Publication type:
- Article
T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
- Published in:
- 2010
- By:
- Publication type:
- journal article
T-cell acute lymphoblastic leukemia in association with Börjeson-Forssman-Lehmann syndrome due to a mutation in PHF6.
- Published in:
- Pediatric Blood & Cancer, 2010, v. 55, n. 4, p. 722, doi. 10.1002/pbc.22574
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- Publication type:
- Article
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
- Published in:
- Human Mutation, 2012, v. 33, n. 3, p. 457, doi. 10.1002/humu.22020
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- Publication type:
- Article
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 13, p. 1631, doi. 10.1093/hmg/ddg172
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- Publication type:
- Article
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggests a single entity with Cowden syndrome.
- Published in:
- Human Molecular Genetics, 1999, v. 8, n. 8, p. 1461, doi. 10.1093/hmg/8.8.1461
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- Publication type:
- Article
Difficulties encountered in a randomization trial of CVS versus amniocentesis for prenatal diagnosis.
- Published in:
- Clinical Genetics, 1987, v. 32, n. 4, p. 235, doi. 10.1111/j.1399-0004.1987.tb03306.x
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- Publication type:
- Article
The characteristic physiognomy and tissue specific karyotype distribution in the Pallister-Killian syndrome.
- Published in:
- Clinical Genetics, 1985, v. 28, n. 1, p. 47, doi. 10.1111/j.1399-0004.1985.tb01217.x
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- Publication type:
- Article
Two children with deletion of the long arm of chromosome 4 with breakpoint at band q33.
- Published in:
- Clinical Genetics, 1982, v. 22, n. 6, p. 348, doi. 10.1111/j.1399-0004.1982.tb01851.x
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- Publication type:
- Article
The Coffin-Lowry syndrome. Experience from four centres.
- Published in:
- Clinical Genetics, 1982, v. 21, n. 5, p. 321, doi. 10.1111/j.1399-0004.1982.tb01379.x
- By:
- Publication type:
- Article
Mosaic tetrasomy 21 in a liveborn male infant.
- Published in:
- Clinical Genetics, 1982, v. 21, n. 4, p. 228, doi. 10.1111/j.1399-0004.1982.tb00755.x
- By:
- Publication type:
- Article
A supernumerary 'G' like chromosome originating from a maternal 13;15 translocation in a nondysmorphic, retarded girl.
- Published in:
- Clinical Genetics, 1979, v. 15, n. 3, p. 273, doi. 10.1111/j.1399-0004.1979.tb00979.x
- By:
- Publication type:
- Article
The genetics of and associated clinical findings in humero-radial synostosis.
- Published in:
- Clinical Genetics, 1976, v. 9, n. 5, p. 470, doi. 10.1111/j.1399-0004.1976.tb01599.x
- By:
- Publication type:
- Article
Hepatic fibrosis, polycystic kidney, colobomata and encephalopathy in siblings.
- Published in:
- Clinical Genetics, 1974, v. 6, n. 2, p. 82, doi. 10.1111/j.1399-0004.1974.tb00636.x
- By:
- Publication type:
- Article
Medical genetics: 2. The diagnostic approach to the child with dysmorphic signs.
- Published in:
- Canadian Medical Association Journal (CMAJ), 2002, v. 167, n. 4, p. 367
- By:
- Publication type:
- Article