Found: 38
Select item for more details and to access through your institution.
Targeted gene sequencing and whole‐exome sequencing in autopsied fetuses with prenatally diagnosed kidney anomalies.
- Published in:
- Clinical Genetics, 2018, v. 93, n. 4, p. 860, doi. 10.1111/cge.13185
- By:
- Publication type:
- Article
Clinical variability of genetic isolates of Cohen syndrome.
- Published in:
- Clinical Genetics, 2011, v. 79, n. 6, p. 501, doi. 10.1111/j.1399-0004.2011.01669.x
- By:
- Publication type:
- Article
Clinical and molecular aspects of aniridia.
- Published in:
- Clinical Genetics, 2010, v. 77, n. 5, p. 409, doi. 10.1111/j.1399-0004.2010.01372.x
- By:
- Publication type:
- Article
Sex-linked deafness.
- Published in:
- Clinical Genetics, 2008, v. 73, n. 1, p. 14, doi. 10.1111/j.1399-0004.2007.00913.x
- By:
- Publication type:
- Article
Mitochondrial deafness.
- Published in:
- Clinical Genetics, 2007, v. 71, n. 5, p. 379, doi. 10.1111/j.1399-0004.2007.00800.x
- By:
- Publication type:
- Article
Non-syndromic, autosomal-recessive deafness.
- Published in:
- Clinical Genetics, 2006, v. 69, n. 5, p. 371, doi. 10.1111/j.1399-0004.2006.00613.x
- By:
- Publication type:
- Article
Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect.
- Published in:
- 1997
- By:
- Publication type:
- journal article
Fatty Acid Composition of Subcutaneous Adipose Tissue in Mother-Infant Pairs.
- Published in:
- Acta Paediatrica, 1987, v. 76, n. 1, p. 87, doi. 10.1111/j.1651-2227.1987.tb10420.x
- By:
- Publication type:
- Article
Status at Two Years in 121 Very Low Birth Weight Survivors Related to Neonatal Intraventricular Haemorrhage and Mode of Delivery.
- Published in:
- Acta Paediatrica, 1986, v. 75, n. 1, p. 24, doi. 10.1111/j.1651-2227.1986.tb10152.x
- By:
- Publication type:
- Article
Changes in Plasma Lipoproteins from First Day to Third Week of Life in Healthy Breast-fed Infants.
- Published in:
- Acta Paediatrica, 1985, v. 74, n. 5, p. 733, doi. 10.1111/j.1651-2227.1985.tb10022.x
- By:
- Publication type:
- Article
GENETICS OF SERUM LIPIDS AND LIPOPROTEINS.
- Published in:
- Acta Paediatrica, 1982, v. 71, n. 5, p. 805, doi. 10.1111/j.1651-2227.1982.tb09523.x
- By:
- Publication type:
- Article
The influence of storage on aroma, soluble solids, acid and colour of sour cherries (Prunus cerasus L.) cv. Stevnsbær.
- Published in:
- European Food Research & Technology, 1999, v. 209, n. 3/4, p. 251, doi. 10.1007/s002170050488
- By:
- Publication type:
- Article
A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis.
- Published in:
- Prenatal Diagnosis, 2002, v. 22, n. 5, p. 425, doi. 10.1002/pd.325
- By:
- Publication type:
- Article
Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation.
- Published in:
- 2001
- By:
- Publication type:
- journal article
The vanishing twin: an explanation for discordance between chorionic villus karyotype and fetal phenotype.
- Published in:
- 1991
- By:
- Publication type:
- journal article
Rare chromosome 20 variants encountered during prenatal diagnosis.
- Published in:
- 1986
- By:
- Publication type:
- journal article
Revisiting the immunocytochemical detection of Neurogenin 3 expression in mouse and man.
- Published in:
- Diabetes, Obesity & Metabolism, 2016, v. 18, p. 10, doi. 10.1111/dom.12718
- By:
- Publication type:
- Article
Audiological profile of the prevalent genetic form of childhood sensorineural hearing loss due to GJB2 mutations in northern Greece.
- Published in:
- European Archives of Oto-Rhino-Laryngology, 2004, v. 261, n. 5, p. 259, doi. 10.1007/s00405-003-0679-7
- By:
- Publication type:
- Article
Nondisjunction in trisomy 21: Origin and mechanisms.
- Published in:
- Cytogenetics & Cell Genetics, 2000, v. 91, n. 1-4, p. 199, doi. 10.1159/000056844
- By:
- Publication type:
- Article
Scratch Induction in the Rat by Intradermal Serotonin: a Model for Pruritus.
- Published in:
- Acta Dermato-Venereologica, 2001, v. 81, n. 4, p. 250, doi. 10.1080/00015550152572868
- By:
- Publication type:
- Article
Simulating trends in crop yield and soil carbon in a long-term experiment—effects of rising CO<sub>2</sub>, N deposition and improved cultivation.
- Published in:
- Plant & Soil, 2006, v. 287, n. 1/2, p. 235, doi. 10.1007/s11104-006-9070-y
- By:
- Publication type:
- Article
Neonatal neuromuscular variant of glycogen storage disease type IV: histopathological findings leading to the diagnosis.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Role of the Gut Microbiota in Atopic Dermatitis: A Systematic Review.
- Published in:
- Acta Dermato-Venereologica, 2019, v. 99, n. 1, p. 5, doi. 10.2340/00015555-3008
- By:
- Publication type:
- Article
A simplified modelling approach for quantifying tillage effects on soil carbon stocks.
- Published in:
- European Journal of Soil Science, 2009, v. 60, n. 6, p. 924, doi. 10.1111/j.1365-2389.2009.01185.x
- By:
- Publication type:
- Article
Origin and mechanisms of non-disjunction in human autosomal trisomies.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Influence of velocity and food availability on catchnet dimensions of Neureclipsis bimaculata (Trichoptera: Polycentropodidae).
- Published in:
- Ecography, 1984, v. 7, n. 4, p. 380, doi. 10.1111/j.1600-0587.1984.tb01139.x
- By:
- Publication type:
- Article
Rapid Brain Cooling in Intubated Pigs through Nasal Flushing with Oxygen: Prevention of Brain Hyperthermia.
- Published in:
- Acta Veterinaria Scandinavica, 2001, v. 42, p. 459, doi. 10.1186/1751-0147-42-459
- By:
- Publication type:
- Article
Loss-of-activity-mutation in the cardiac chloride-bicarbonate exchanger AE3 causes short QT syndrome.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01630-0
- By:
- Publication type:
- Article
Oxidative Stability and Sensory Attributes of Fermented Milk Product Fortified with Fish Oil and Marine Phospholipids.
- Published in:
- Journal of the American Oil Chemists' Society (JAOCS), 2013, v. 90, n. 11, p. 1673, doi. 10.1007/s11746-013-2310-4
- By:
- Publication type:
- Article
Pentasomy 49,XXXXY Diagnosed in utero: Case Report and Systematic Review of Antenatal Findings.
- Published in:
- Fetal Diagnosis & Therapy, 2009, v. 26, n. 1, p. 1, doi. 10.1159/000236351
- By:
- Publication type:
- Article
Analysis of the origin of the extra chromosome in trisomy 8 in 4 cases of spontaneous abortions.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Anomalies in hydropsychid capture nets from polluted streams.
- Published in:
- Freshwater Biology, 1983, v. 13, n. 2, p. 185, doi. 10.1111/j.1365-2427.1983.tb00670.x
- By:
- Publication type:
- Article
Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face.
- Published in:
- Cytogenetic & Genome Research, 2006, v. 114, n. 3/4, p. 330, doi. 10.1159/000094222
- By:
- Publication type:
- Article
Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings.
- Published in:
- 2002
- By:
- Publication type:
- journal article
Carbon turnover and sequestration potential of fodder radish cover crop.
- Published in:
- Soil Use & Management, 2013, v. 29, n. 2, p. 191, doi. 10.1111/sum.12038
- By:
- Publication type:
- Article
Nitrogen cycling in organic farming systems with rotational grass–clover and arable crops.
- Published in:
- Soil Use & Management, 2006, v. 22, n. 2, p. 197, doi. 10.1111/j.1475-2743.2005.00016.x
- By:
- Publication type:
- Article
Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 6, p. 1011, doi. 10.1093/hmg/7.6.1011
- By:
- Publication type:
- Article
Segregation analysis of balanced pericentric inversions in pedigree data.
- Published in:
- Clinical Genetics, 1986, v. 30, n. 2, p. 87, doi. 10.1111/j.1399-0004.1986.tb00575.x
- By:
- Publication type:
- Article