Works matching DE "HUMAN chromosome abnormalities"
Results: 1178
A regulator of Dscam mutually exclusive splicing fidelity.
- Published in:
- 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.
- Published in:
- Nature Structural & Molecular Biology, 2005, v. 12, n. 1, p. 54, doi. 10.1038/nsmb873
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- Publication type:
- Article
The Leukemias of Down Syndrome.
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- Current Medical Literature: Leukemia & Lymphoma, 2008, v. 16, n. 4, p. 89
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- Publication type:
- Article
CITATIONS AND CLINICIANS' NOTES: OBSTETRICS -- PRENATAL SCREENING.
- Published in:
- Current Medical Literature: Gynecology & Obstetrics, 2004, v. 10, n. 1, p. 16
- Publication type:
- Article
Hypermethylation of CpG islands is associated with increasing chromosomal damage in chinese lead‐exposed workers.
- Published in:
- Environmental & Molecular Mutagenesis, 2018, v. 59, n. 6, p. 549, doi. 10.1002/em.22194
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- Publication type:
- Article
Aberrations in chromosomes associated with lymphoma and therapy‐related leukemia in benzene‐exposed workers.
- Published in:
- Environmental & Molecular Mutagenesis, 2007, v. 48, n. 6, p. 467, doi. 10.1002/em.20306
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- Publication type:
- Article
Tetralogy of Fallot, Hypertrophic Cardiomyopathy, and Down's Syndrome: A Rare and Challenging Combination.
- Published in:
- Pediatric & Developmental Pathology, 2006, v. 9, n. 4, p. 307, doi. 10.2350/10-05-0113.1
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- Publication type:
- Article
Alveolar Capillary Dysplasia in an Infant With Trisomy 21.
- Published in:
- Pediatric & Developmental Pathology, 2005, v. 8, n. 6, p. 696, doi. 10.1007/s10024-005-2137-6
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- Publication type:
- Article
Genetic Haploinsufficiency as a Phenotypic Determinant of a Deletion 13q Syndrome.
- Published in:
- Pediatric & Developmental Pathology, 2005, v. 8, n. 6, p. 658, doi. 10.1007/s10024-005-0066-z
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- Publication type:
- Article
Renal Tubular Dysgenesis in an Hydropic Fetus with Trisomy 21: a Case Report with Literature Review.
- Published in:
- Pediatric & Developmental Pathology, 2003, v. 6, n. 6, p. 568, doi. 10.1007/s10024-003-1008-2
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- Publication type:
- Article
Total hip arthroplasty in patients with Down's syndrome.
- Published in:
- International Orthopaedics, 2011, v. 35, n. 5, p. 661, doi. 10.1007/s00264-010-1030-8
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- Publication type:
- Article
Multislice CT and CT angiography for non-invasive evaluation of bronchopulmonary sequestration.
- Published in:
- 2004
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- Publication type:
- journal article
The role of overexpressed DYRK1A protein in the early onset of neurofibrillary degeneration in Down syndrome.
- Published in:
- Acta Neuropathologica, 2008, v. 116, n. 4, p. 391, doi. 10.1007/s00401-008-0419-6
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- Publication type:
- Article
Fetal ependymoma associated with Down's syndrome.
- Published in:
- Acta Neuropathologica, 2002, v. 103, n. 1, p. 78, doi. 10.1007/s004010100431
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- Publication type:
- Article
Mating, channels and kidney cysts.
- Published in:
- Nature, 1999, v. 401, n. 6751, p. 339, doi. 10.1038/43810
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- Publication type:
- Article
A New Emotional Stroop-Like Task: Application to the Down Syndrome Population.
- Published in:
- Archives of Clinical Neuropsychology, 2009, v. 24, n. 3, p. 293, doi. 10.1093/arclin/acp036
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- Publication type:
- Article
BS19 BRCA 1 & BRCA2 GENE TESTING FOR BREAST AND OVARIAN CANCER IN AUSTRALIA AND NEW ZEALAND – THE GTG EXPERIENCE.
- Published in:
- ANZ Journal of Surgery, 2007, v. 77, p. 5, doi. 10.1111/j.1445-2197.2007.04114_19.x
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- Publication type:
- Article
CAROLI’S SYNDROME AND ADULT POLYCYSTIC KIDNEY DISEASE.
- Published in:
- ANZ Journal of Surgery, 2007, v. 77, n. 4, p. 292, doi. 10.1111/j.1445-2197.2006.03659.x
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- Publication type:
- Article
Highly symptomatic adult polycystic liver disease: options and results of surgical management.
- Published in:
- ANZ Journal of Surgery, 2004, v. 74, n. 8, p. 653, doi. 10.1111/j.1445-1433.2004.03112.x
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- Publication type:
- Article
Fabry's Disease Presenting as Stroke in a Young Female.
- Published in:
- Canadian Journal of Neurological Sciences, 2004, v. 31, n. 1, p. 112, doi. 10.1017/S0317167100002936
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- Publication type:
- Article
Bony Metastases of Anaplastic Oligodendroglioma Respond to Temozolomide.
- Published in:
- Canadian Journal of Neurological Sciences, 2004, v. 31, n. 1, p. 102, doi. 10.1017/S0317167100002912
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- Publication type:
- Article
Loss of heterozygosity on chromosome 17p predicts neoplastic progression in Barrett's esophagus.
- Published in:
- Journal of Gastroenterology & Hepatology, 2003, v. 18, n. 6, p. 683, doi. 10.1046/j.1440-1746.2003.03048.x
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- Publication type:
- Article
Chronic subdural haematoma and autosomal polycystic kidney disease: Report of two new cases.
- Published in:
- Nephrology, 2004, v. 9, n. 5, p. 331, doi. 10.1111/j.1440-1797.2004.00270.x
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- Publication type:
- Article
A Case of Acquired Haemophilia A in a Patient with Chronic Myelomonocytic Leukaemia.
- Published in:
- Case Reports in Hematology, 2019, p. 1, doi. 10.1155/2019/8612031
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- Publication type:
- Article
Polycystins: inhibiting the inhibitors.
- Published in:
- Nature Cell Biology, 2005, v. 7, n. 12, p. 1064, doi. 10.1038/ncb1205-1064
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- Publication type:
- Article
Polycystin-1 and polycystin-2 regulate the cell cycle through the helix–loop–helix inhibitor Id2.
- Published in:
- Nature Cell Biology, 2005, v. 7, n. 12, p. 1102, doi. 10.1038/ncb1326
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- Publication type:
- Article
A Quantitative Three-Dimensional Assessment of Abnormal Variations in the Facial Soft Tissues of Individuals With Down Syndrome.
- Published in:
- Cleft Palate Craniofacial Journal, 2005, v. 42, n. 4, p. 410, doi. 10.1597/04-005.1
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- Publication type:
- Article
TOTAL ANOMALOUS PULMONARY VENOUS RETURN IN SIBLINGS.
- Published in:
- 2014
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- Publication type:
- Case Study
GENETIC COUNSELING: IMPLICATIONS FOR SOCIAL WORK PRACTICE.
- Published in:
- Clinical Social Work Journal, 1980, v. 8, n. 2, p. 99, doi. 10.1007/BF00761129
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- Publication type:
- Article
Fragile X Syndrome: An Update and Review for the Primary Pediatrician.
- Published in:
- Clinical Pediatrics, 2005, v. 44, n. 5, p. 371, doi. 10.1177/000992280504400501
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- Publication type:
- Article
Trisomy 21 and Congenital Heart Disease: Effect of Timing of Initial Echocardiogram.
- Published in:
- Clinical Pediatrics, 2005, v. 44, n. 1, p. 39, doi. 10.1177/000992280504400104
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- Publication type:
- Article
Three A's and a wedding.
- Published in:
- 1996
- By:
- Publication type:
- Editorial
Adrenal insufficiency after achalasia in the triple-A syndrome.
- Published in:
- Clinical Pediatrics, 1996, v. 35, n. 2, p. 99, doi. 10.1177/000992289603500208
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- Publication type:
- Article
Characteristics of Very Early Onset Autosomal Dominant Polycystic Kidney Disease.
- Published in:
- Clinical Pediatrics, 1993, v. 32, n. 10, p. 639, doi. 10.1177/000992289303201018
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- Publication type:
- Article
Cholelithiasis in Infants with Down Syndrome.
- Published in:
- Clinical Pediatrics, 1992, v. 31, n. 11, p. 650, doi. 10.1177/000992289203101102
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- Publication type:
- Article
Dietary Practices, Physical Activity, and Body-Mass Index in a Selected Population of Down Syndrome Children and Their Siblings.
- Published in:
- Clinical Pediatrics, 1992, v. 31, n. 6, p. 341, doi. 10.1177/000992289203100605
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- Publication type:
- Article
Klinefelter Syndrome: The Need for Early Identification and Treatment.
- Published in:
- Clinical Pediatrics, 1991, v. 30, n. 3, p. 161, doi. 10.1177/000992289103000305
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- Publication type:
- Article
Long Term Follow-Up of Children with Down Syndrome with Cardiac Lesions.
- Published in:
- Clinical Pediatrics, 1990, v. 29, n. 10, p. 569, doi. 10.1177/000992289002901003
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- Publication type:
- Article
Down Syndrome.
- Published in:
- Clinical Pediatrics, 1988, v. 27, n. 9, p. 415, doi. 10.1177/000992288802700901
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- Publication type:
- Article
A converging-methods approach to fragile X syndrome.
- Published in:
- Developmental Psychobiology, 2002, v. 40, n. 3, p. 323, doi. 10.1002/dev.10036
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- Publication type:
- Article
A twisted hand: bHLH protein phosphorylation and dimerization regulate limb development.
- Published in:
- BioEssays, 2005, v. 27, n. 11, p. 1102, doi. 10.1002/bies.20313
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- Publication type:
- Article
Polycystins and mechanosensation in renal and nodal cilia.
- Published in:
- BioEssays, 2004, v. 26, n. 8, p. 844, doi. 10.1002/bies.20069
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- Publication type:
- Article
Gastrointestinal complications of von Recklinghausen's disease: two case reports and a review of the literature.
- Published in:
- Scandinavian Journal of Gastroenterology, 2003, v. 38, n. 12, p. 1275, doi. 10.1080/00365520310005712
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- Publication type:
- Article
Effects of a social stimulus on gene expression in a mouse model of fragile X syndrome.
- Published in:
- Molecular Autism, 2017, v. 8, p. 1, doi. 10.1186/s13229-017-0148-6
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- Publication type:
- Article
Patterns of syntactic development in children with Williams syndrome and Down's syndrome: Evidence from passives and wh-questions.
- Published in:
- Clinical Linguistics & Phonetics, 2007, v. 21, n. 9, p. 705, doi. 10.1080/02699200701541375
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- Publication type:
- Article
Childhood Cancers Gradually Yielding to Advances in Diagnosis, Therapy, Knowledge of Origin.
- Published in:
- JAMA: Journal of the American Medical Association, 1991, v. 265, n. 9, p. 1070, doi. 10.1001/jama.1991.03460090018006
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- Publication type:
- Article
Genetics of Turner's Syndrome.
- Published in:
- JAMA: Journal of the American Medical Association, 1989, v. 261, n. 13, p. 1958
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- Publication type:
- Article
A Functional Systems Approach to Movement Pathology.
- Published in:
- Adapted Physical Activity Quarterly, 1993, v. 10, n. 4, p. 312, doi. 10.1123/apaq.10.4.312
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- Publication type:
- Article
Manual Skills in Down Syndrome Children Ages 6 to 16 Years.
- Published in:
- Adapted Physical Activity Quarterly, 1991, v. 8, n. 3, p. 242, doi. 10.1123/apaq.8.3.242
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- Publication type:
- Article
Fractionated Reaction Times and Movement Times of Down Syndrome and Other Adults With Mental Retardation.
- Published in:
- Adapted Physical Activity Quarterly, 1991, v. 8, n. 3, p. 221, doi. 10.1123/apaq.8.3.221
- By:
- Publication type:
- Article