Works matching DE "HUMAN chromosome abnormalities"
Results: 1182
A regulator of Dscam mutually exclusive splicing fidelity.
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- Nature Structural & Molecular Biology, 2007, v. 14, n. 12, p. 1134, doi. 10.1038/nsmb1339
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- Publication type:
- Article
An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.
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- Nature Structural & Molecular Biology, 2005, v. 12, n. 1, p. 54, doi. 10.1038/nsmb873
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- Publication type:
- Article
"You've Got It, You May Have It, You Haven't Got It: Multiplicity, Heterogeneity, and the Unintended Consequences of HIV-related Tests.
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- Science, Technology & Human Values, 2009, v. 34, n. 1, p. 102, doi. 10.1177/0162243907310376
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- Article
Oguchi disease.
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- Journal of Postgraduate Medicine, 2006, v. 52, n. 2, p. 143
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- Article
Recent advances in ideas on the molecular pathology and clinical aspects of Von Hippel-Lindau disease.
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- International Journal of Clinical Oncology, 2004, v. 9, n. 4, p. 283, doi. 10.1007/s10147-004-0415-3
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- Article
Repair of Complete Atrioventricular Septal Defect in Infants with Down Syndrome: Outcomes and Long-Term Results.
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- Pediatric Cardiology, 2015, v. 36, n. 1, p. 71, doi. 10.1007/s00246-014-0966-7
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- Article
Outcomes of renal transplantation in patients with autosomal dominant polycystic kidney disease: a nationwide longitudinal study.
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- Transplant International, 2011, v. 24, n. 6, p. 582, doi. 10.1111/j.1432-2277.2011.01237.x
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- Article
The place of liver transplantation in Caroli's disease and syndrome.
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- Transplant International, 2006, v. 19, n. 5, p. 381, doi. 10.1111/j.1432-2277.2006.00292.x
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- Publication type:
- Article
Proteomic analysis of TRPC5- and TRPC6-binding partners reveals interaction with the plasmalemmal Na<sup>+</sup>/K<sup>+</sup>-ATPase.
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- Pflügers Archiv: European Journal of Physiology, 2005, v. 451, n. 1, p. 87, doi. 10.1007/s00424-005-1454-y
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- Article
Effect of hydro-osmotic pressure on polycystin-2 channel function in the human syncytiotrophoblast.
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- Pflügers Archiv: European Journal of Physiology, 2005, v. 451, n. 1, p. 294, doi. 10.1007/s00424-005-1458-7
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- Publication type:
- Article
Association between fragile X premutation and premature ovarian failure: a case-control study and meta-analysis.
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- Archives of Gynecology & Obstetrics, 2014, v. 289, n. 6, p. 1255, doi. 10.1007/s00404-014-3145-4
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- Publication type:
- Article
Male infertility associated with adult dominant polycystic kidney disease: a case series.
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- 2009
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- Publication type:
- journal article
A rare occurrence of trisomy 18 and trisomy 21 in a dizygotic twin pregnancy.
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- Archives of Gynecology & Obstetrics, 2007, v. 276, n. 5, p. 533, doi. 10.1007/s00404-007-0378-5
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- Publication type:
- Article
The role of overexpressed DYRK1A protein in the early onset of neurofibrillary degeneration in Down syndrome.
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- Acta Neuropathologica, 2008, v. 116, n. 4, p. 391, doi. 10.1007/s00401-008-0419-6
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- Publication type:
- Article
The genomic and transcriptomic architecture of 2,000 breast tumours reveals novel subgroups.
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- Nature, 2012, v. 486, n. 7403, p. 346, doi. 10.1038/nature10983
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- Article
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
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- Nature, 2011, v. 478, n. 7367, p. 97, doi. 10.1038/nature10406
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- Article
The wages of CIN.
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- Journal of Cell Biology, 2008, v. 180, n. 4, p. 661, doi. 10.1083/jcb.200801030
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- Article
NOONAN SYNDROME PRESENTING WITH ORAL AND DENTOFACIAL ABNORMALITIES.
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- Quintessence International, 2002, v. 33, n. 7, p. 554
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- Article
Clinical Images in Oral Medicine and Maxillofacial Radiology.
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- Quintessence International, 2001, v. 32, n. 3, p. 254
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- Article
Testicular tumor in Down syndrome.
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- International Journal of Urology, 2005, v. 12, n. 10, p. 925, doi. 10.1111/j.1442-2042.2005.01174.x
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- Article
Unilateral and segmental cystic disease of the kidney.
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- International Journal of Urology, 2005, v. 12, n. 3, p. 308, doi. 10.1111/j.1442-2042.2005.01022.x
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- Publication type:
- Article
Adults With Down Syndrome Performed Repetitive Movements Fast With Continuous Music Cues.
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- Journal of Motor Learning & Development, 2014, v. 2, n. 3, p. 47, doi. 10.1123/jmld.2014-0040
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- Publication type:
- Article
Molecular analysis of the rhodopsin gene in southern France: identificationof the first duplication responsible for retinitis pigmentosa, c.998^999ins4.
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- Ophthalmic Genetics, 1999, v. 20, n. 3, p. 173, doi. 10.1076/opge.20.3.173.2282
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- Article
Polycystic kidney and hepatic disease with mental retardation and hand anomalies in three siblings.
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- 2009
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- Publication type:
- Report
WT1 and NPHS2 mutations in Korean children with steroid-resistant nephrotic syndrome.
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- Pediatric Nephrology, 2008, v. 23, n. 1, p. 63, doi. 10.1007/s00467-007-0620-1
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- Publication type:
- Article
A clinico-genetic study of renal coloboma syndrome in children.
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- Pediatric Nephrology, 2007, v. 22, n. 9, p. 1283, doi. 10.1007/s00467-007-0525-z
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- Publication type:
- Article
Prognosis of autosomal dominant polycystic kidney disease diagnosed in utero or at birth.
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- Pediatric Nephrology, 2007, v. 22, n. 3, p. 380, doi. 10.1007/s00467-006-0327-8
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- Article
A familial case of multicystic dysplastic kidney.
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- Pediatric Nephrology, 2005, v. 20, n. 9, p. 1245, doi. 10.1007/s00467-005-1905-x
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- Article
A mechanistic approach to inherited polycystic kidney disease.
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- Pediatric Nephrology, 2005, v. 20, n. 5, p. 558, doi. 10.1007/s00467-004-1665-z
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- Publication type:
- Article
Poster Presentations P448 - P542.
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- Pediatric Nephrology, 2004, v. 19, n. 9, p. C204, doi. 10.1007/s00467-004-1641-7
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- Article
Recent Advances in Understanding the Pathogenesis of Polycystic Kidney Disease: Therapeutic Implications.
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- Drugs, 2004, v. 64, n. 12, p. 1285, doi. 10.2165/00003495-200464120-00002
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- Article
Down Syndrome and Nonautoimmune Hypothyroidisms in Neonates and Infants.
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- Hormone Research in Paediatrics, 2015, v. 83, n. 2, p. 126, doi. 10.1159/000370004
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- Article
Molecular Karyotyping: From Microscope to SNP Arrays.
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- Hormone Research in Paediatrics, 2011, v. 76, n. 3, p. 208, doi. 10.1159/000330406
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- Article
Verbal deficits in Down's syndrome and specific language impairment: a comparison.
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- International Journal of Language & Communication Disorders, 2004, v. 39, n. 4, p. 423, doi. 10.1080/13682820410001681207
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- Article
Longitudinal changes in intellectual development in children with Fragile X syndrome.
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- 2008
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- Publication type:
- journal article
Modeling family dynamics in children with fragile x syndrome.
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- 2007
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- Publication type:
- journal article
Is theory of mind understanding impaired in males with fragile X syndrome?
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- 2007
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- Publication type:
- journal article
Congenital atrichia associated with an uncommon mutation of HR gene.
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- 2013
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- Publication type:
- Letter
Flavonoids of the Heartwood of Cotinus coggygria Scop. Showing Protective Effect on Human Lymphocyte DNA.
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- Natural Product Communications, 2021, v. 16, n. 12, p. 1, doi. 10.1177/1934578X211067289
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- Article
Test Yourself #3, 2022.
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- Journal of the Association of Genetic Technologists, 2022, v. 48, n. 3, p. 114
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- Article
The Role of Repeat DNA Sequences in Human Evolution and Disease.
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- Journal of the Association of Genetic Technologists, 2022, v. 48, n. 2, p. 54
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- Article
Antenatal Diagnosis and Management of Nuchal Cystic Hygroma.
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- Donald School Journal of Ultrasound in Obstetrics & Gynecology, 2012, v. 6, n. 1, p. 109, doi. 10.5005/jp-journals-10009-1232
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- Article
Cancer ameliorating potential of Phyllanthus amarus: In vivo and in vitro studies against Aflatoxin B1 toxicity.
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- Egyptian Journal of Medical Human Genetics, 2015, v. 16, n. 4, p. 343, doi. 10.1016/j.ejmhg.2015.05.005
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- Publication type:
- Article
Differential response of biochemical parameters to EMS and MMS treatments and their dose effect relationship on chromosomes in induced diabetic mouse.
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- Egyptian Journal of Medical Human Genetics, 2015, v. 16, n. 4, p. 301, doi. 10.1016/j.ejmhg.2015.05.004
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- Publication type:
- Article
The impact of temporal variability of biochemical markers PAPP-A and free β-hCG on the specificity of the first-trimester Down syndrome screening: a Croatian retrospective study.
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- BMC Research Notes, 2010, v. 3, p. 194, doi. 10.1186/1756-0500-3-194
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- Publication type:
- Article
The cytogenetic aspect of male infertility.
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- Iranian Journal of Reproductive Medicine, 2014, v. 12, n. 12, p. 835
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- Publication type:
- Article
A comparative cohort study for detecting the incidence of trisomy 21 in ART and non-ART neonates.
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- Iranian Journal of Reproductive Medicine, 2014, v. 12, n. 6, p. 435
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- Publication type:
- Article
Accelerated development of object permanence in Down's syndrome infants.
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- Child: Care, Health & Development, 1987, v. 13, n. 4, p. 247, doi. 10.1111/j.1365-2214.1987.tb00541.x
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- Publication type:
- Article
Development of Down's syndrome infants with and without heart defects and changes in their caretaking environment.
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- Child: Care, Health & Development, 1987, v. 13, n. 2, p. 87, doi. 10.1111/j.1365-2214.1987.tb00526.x
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- Publication type:
- Article
Down's syndrome and toddler temperament.
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- Child: Care, Health & Development, 1987, v. 13, n. 1, p. 1, doi. 10.1111/j.1365-2214.1987.tb00519.x
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- Publication type:
- Article