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Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 6, p. 573, doi. 10.1007/s10038-008-0275-1
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- Publication type:
- Article
Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation.
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- Human Molecular Genetics, 2008, v. 17, n. 13, p. 2030, doi. 10.1093/hmg/ddn100
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- Publication type:
- Article
Correction to 'Turbulence in the wintertime northern Adriatic Sea under strong atmospheric forcing'.
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- Journal of Geophysical Research. Oceans, 2007, v. 112, n. C6, p. n/a, doi. 10.1029/2007JC004282
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- Publication type:
- Article
Turbulence in the wintertime northern Adriatic Sea under strong atmospheric forcing.
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- Journal of Geophysical Research. Oceans, 2007, v. 112, n. C3, p. n/a, doi. 10.1029/2006JC003634
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- Publication type:
- Article
Somali Current rings in the eastern Gulf of Aden.
- Published in:
- Journal of Geophysical Research. Oceans, 2006, v. 111, n. C9, p. n/a, doi. 10.1029/2005JC003338
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- Publication type:
- Article
Numerical Simulation of the Red Sea Outflow Using HYCOM and Comparison with REDSOX Observations.
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- Journal of Physical Oceanography, 2008, v. 38, n. 2, p. 337, doi. 10.1175/2007JPO3697.1
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- Article
CORRIGENDUM.
- Published in:
- 2007
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- Publication type:
- Correction notice
Bottom Layer Turbulence in the Red Sea Outflow Plume.
- Published in:
- Journal of Physical Oceanography, 2006, v. 36, n. 9, p. 1763, doi. 10.1175/JPO2939.1
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- Publication type:
- Article
Equilibration and Circulation of Red Sea Outflow Water in the Western Gulf of Aden.
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- Journal of Physical Oceanography, 2005, v. 35, n. 11, p. 1963, doi. 10.1175/JPO2787.1
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- Publication type:
- Article
Mixing and Entrainment in the Red Sea Outflow Plume. Part I: Plume Structure.
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- Journal of Physical Oceanography, 2005, v. 35, n. 5, p. 569, doi. 10.1175/JPO2679.1
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- Publication type:
- Article
Mixing and Entrainment in the Red Sea Outflow Plume. Part II: Turbulence Characteristics.
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- Journal of Physical Oceanography, 2005, v. 35, n. 5, p. 584, doi. 10.1175/JPO2689.1
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- Publication type:
- Article
Reply.
- Published in:
- Journal of Physical Oceanography, 2005, v. 35, n. 1, p. 135, doi. 10.1175/JPO-2686.1
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- Publication type:
- Article
Turbulence Closure, Steady State, and Collapse into Waves.
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- Journal of Physical Oceanography, 2004, v. 34, n. 2, p. 505, doi. 10.1175/1520-0485(2004)034<0505:TCSSAC>2.0.CO;2
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- Publication type:
- Article
Broadly Distributed and Locally Enhanced Turbulent Mixing in a Tidal Estuary.
- Published in:
- Journal of Physical Oceanography, 2003, v. 33, n. 9, p. 1967, doi. 10.1175/1520-0485(2003)033<1967:BDALET>2.0.CO;2
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- Publication type:
- Article
Turbulent Mixing in the Red Sea Outflow Plume from a High-Resolution Nonhydrostatic Model.
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- Journal of Physical Oceanography, 2003, v. 33, n. 8, p. 1846, doi. 10.1175/1520-0485(2003)033<1846:TMITRS>2.0.CO;2
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- Publication type:
- Article
Microstructure Observations of Turbulent Mixing in a Partially Mixed Estuary. Part II: Salt Flux and Stress.
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- Journal of Physical Oceanography, 2001, v. 31, n. 4, p. 1105, doi. 10.1175/1520-0485(2001)031<1105:MOOTMI>2.0.CO;2
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- Publication type:
- Article
Hay-Wells-Syndrom bei einem Kind mit Mutation auf dem Gen TP73L.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2007, v. 5, n. 10, p. -1, doi. 10.1111/j.1610-0387.2007.06379_supp.x
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- Publication type:
- Article
Hay-Wells syndrome in a child with mutation in the TP73L gene.
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- Journal der Deutschen Dermatologischen Gesellschaft, 2007, v. 5, n. 10, p. 919, doi. 10.1111/j.1610-0387.2007.06379.x
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- Publication type:
- Article
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
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- 2010
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- Publication type:
- Correction notice
Differential MSH2 promoter methylation in blood cells of Neurofibromatosis type 1 (NF1) patients.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 1, p. 81, doi. 10.1038/ejhg.2009.129
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- Publication type:
- Article
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.
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- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 420, doi. 10.1038/ejhg.2008.188
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- Publication type:
- Article
Ectodermal Defects and Anal Atresia in a Child with a TP63 Mutation-Expanding the Phenotypic Spectrum.
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- Pediatric Dermatology, 2015, v. 32, n. 3, p. 421, doi. 10.1111/pde.12395
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- Publication type:
- Article
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.
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- Nature Genetics, 2001, v. 28, n. 2, p. 125, doi. 10.1038/88832
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- Publication type:
- Article
Gulf of Aden eddies and their impact on Red Sea Water.
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- Geophysical Research Letters, 2002, v. 29, n. 21, p. 21-1, doi. 10.1029/2002GL015342
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- Publication type:
- Article
Mutation analysis of BRCA1 and BRCA2 genes in Iranian high risk breast cancer families.
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- Journal of Cancer Research & Clinical Oncology, 2005, v. 131, n. 8, p. 552, doi. 10.1007/s00432-005-0678-8
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- Publication type:
- Article
Second-moment closures and length scales for weakly stratified turbulent shear flows.
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- Journal of Geophysical Research. Oceans, 2000, v. 105, n. C3, p. 6453, doi. 10.1029/1999JC900329
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- Publication type:
- Article
On the parameterization of equatorial turbulence: Effect of fine-scale variations below the range of the diurnal cycle.
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- Journal of Geophysical Research. Oceans, 1995, v. 100, n. C9, p. 18333, doi. 10.1029/95JC01513
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- Publication type:
- Article
Detail and scaling of turbulent overturns in the Pacific Equatorial Undercurrent.
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- Journal of Geophysical Research. Oceans, 1995, v. 100, n. C9, p. 18349, doi. 10.1029/95JC01360
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- Publication type:
- Article
The diurnal cycle of the upper equatorial ocean: Turbulence, fine-scale shear, and mean shear.
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- Journal of Geophysical Research. Oceans, 1994, v. 99, n. C4, p. 7707, doi. 10.1029/93JC03506
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- Publication type:
- Article
Equatorial and off-equatorial fine-scale and large-scale shear variability at 140°W.
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- Journal of Geophysical Research. Oceans, 1991, v. 96, n. C9, p. 16913, doi. 10.1029/91JC01317
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- Publication type:
- Article
Turbulence and high-frequency variability in a deep gravity current outflow.
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- Geophysical Research Letters, 2012, v. 39, n. 18, p. n/a, doi. 10.1029/2012GL052899
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- Publication type:
- Article
A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia.
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- Human Mutation, 1999, v. 13, n. 6, p. 505, doi. 10.1002/(SICI)1098-1004(1999)13:6<505::AID-HUMU16>3.0.CO;2-0
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- Publication type:
- Article
A novel mutation L1425p in the GAP-region of the NF1 gene detected by temperature gradient gel electrophoresis (TGGE);.
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- Human Mutation, 1999, v. 13, n. 4, p. 337, doi. 10.1002/(SICI)1098-1004(1999)13:4<337::AID-HUMU12>3.0.CO;2-F
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- Publication type:
- Article
Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): Five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients.
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- Human Mutation, 1999, v. 13, n. 3, p. 258, doi. 10.1002/(SICI)1098-1004(1999)13:3<258::AID-HUMU17>3.0.CO;2-1
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- Publication type:
- Article
A novel 5-bp deletion in exon 30 of the neurofibromatosis type 1 (NF1) gene.
- Published in:
- Human Mutation, 1999, v. 13, n. 3, p. 259, doi. 10.1002/(SICI)1098-1004(1999)13:3<259::AID-HUMU19>3.0.CO;2-T
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- Publication type:
- Article
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
- Published in:
- Human Mutation, 2010, v. 31, n. 8, p. E1587, doi. 10.1002/humu.21298
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- Publication type:
- Article
Monozygotic twins with neurofibromatosis type 1 (NF1) display differences in methylation of NF1 gene promoter elements, 5' untranslated region, exon and intron 1.
- Published in:
- 2010
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- Publication type:
- journal article
Recurrence of split hand/foot malformation, cleft lip/palate, and severe urogenital abnormalities due to germline mosaicism for TP63 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 9, p. 2372, doi. 10.1002/ajmg.a.37816
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- Publication type:
- Article
Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype.
- Published in:
- Annals of Neurology, 2002, v. 51, n. 5, p. 662, doi. 10.1002/ana.10184
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- Publication type:
- Article
Selective disactivation of neurofibromin GAP activity in neurofibromatosis type 1 (NF1).
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 8, p. 1261, doi. 10.1093/hmg/7.8.1261
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- Publication type:
- Article