Works about HUMAN chromosome abnormalities
Results: 1178
Adaptive behaviour in Down syndrome: a cross-sectional study from childhood to adulthood.
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- Wiener Klinische Wochenschrift, 2010, v. 122, n. 23/24, p. 673, doi. 10.1007/s00508-010-1504-0
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- Publication type:
- Article
ADPKD: molecular characterization and quest for treatment.
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- Clinical & Experimental Nephrology, 2005, v. 9, n. 4, p. 282, doi. 10.1007/s10157-005-0367-6
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- Publication type:
- Article
Hypocalcemia due to tubular dysfunction in a patient with holoprosencephaly.
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- Clinical & Experimental Nephrology, 2005, v. 9, n. 3, p. 244, doi. 10.1007/s10157-005-0371-x
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- Publication type:
- Article
Tetralogy of Fallot, Hypertrophic Cardiomyopathy, and Down's Syndrome: A Rare and Challenging Combination.
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- 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.
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- 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.
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- Pediatric & Developmental Pathology, 2005, v. 8, n. 6, p. 658, doi. 10.1007/s10024-005-0066-z
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- Article
Renal Tubular Dysgenesis in an Hydropic Fetus with Trisomy 21: a Case Report with Literature Review.
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- Pediatric & Developmental Pathology, 2003, v. 6, n. 6, p. 568, doi. 10.1007/s10024-003-1008-2
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- Article
Impaired formation of desmosomal junctions in ADPKD epithelia.
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- Histochemistry & Cell Biology, 2005, v. 124, n. 6, p. 487, doi. 10.1007/s00418-005-0055-3
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- Article
Stepping over obstacles: anticipatory modifications in children with and without Down syndrome.
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- Experimental Brain Research, 2004, v. 159, n. 4, p. 487, doi. 10.1007/s00221-004-1971-5
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- Article
A Reference for Ductus Venosus Blood Flow at 11-13 Weeks of Gestation.
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- Gynecologic & Obstetric Investigation, 2014, v. 78, n. 1, p. 22, doi. 10.1159/000362273
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- Article
Chromosomal Abnormalities in Couples with Reproductive Disorders.
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- Gynecologic & Obstetric Investigation, 2008, v. 66, n. 4, p. 237, doi. 10.1159/000147170
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- Publication type:
- Article
Recent advances in assays for the fragile X-related disorders.
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- Human Genetics, 2017, v. 136, n. 10, p. 1313, doi. 10.1007/s00439-017-1840-5
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- Publication type:
- Article
47. Simpson-Golabi-Behmel Syndrome (SOBS).
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- JNCI: Journal of the National Cancer Institute, 2008, n. 38, p. 82
- Publication type:
- Article
GATA1, Cytidine Deaminase, and the High Cure Rate of Down Syndrome.
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- JNCI: Journal of the National Cancer Institute, 2005, v. 97, n. 3, p. 226, doi. 10.1093/jnci/dji026
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- Publication type:
- Article
Telomere Dysfunction: A Potential Cancer Predisposition Factor.
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- JNCI: Journal of the National Cancer Institute, 2003, v. 95, n. 16, p. 1211
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- Publication type:
- Article
A study of early fine motor intervention in Down's syndrome children.
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- Early Child Development & Care, 2009, v. 179, n. 5, p. 631, doi. 10.1080/03004430701453754
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- Publication type:
- Article
Results from an experimental study about reinforcements employed in early training.
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- Early Child Development & Care, 2004, v. 174, n. 2, p. 193, doi. 10.1080/0300443032000153525
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- Publication type:
- Article
Early Language Stimulation of Down's Syndrome Babies: a study on the optimum age to begin.
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- Early Child Development & Care, 2002, v. 172, n. 6, p. 651, doi. 10.1080/03004430215098
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- Publication type:
- Article
A Novel Growth Retardation and Abnormal Gonad Morphology, Locus on Mouse Chromosome 4.
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- Journal of Heredity, 2009, v. 100, n. 3, p. 380, doi. 10.1093/jhered/esn106
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- Publication type:
- Article
Inhibition of GluN2A NMDA receptors ameliorates synaptic plasticity deficits in the Fmr1<sup>−/y</sup> mouse model.
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- Journal of Physiology, 2018, v. 596, n. 20, p. 5017, doi. 10.1113/JP276304
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- Publication type:
- Article
GABA<sub>B</sub> receptor-mediated feed-forward circuit dysfunction in the mouse model of fragile X syndrome.
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- Journal of Physiology, 2015, v. 593, n. 22, p. 5009, doi. 10.1113/JP271190
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- Publication type:
- Article
Arab gene geography: From population diversities to personalized medical genomics.
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- Global Cardiology Science & Practice, 2014, v. 2014, n. 4, p. 238, doi. 10.5339/gcsp.2014.54
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- Publication type:
- Article
Diverse phenotype of Brooke–Spiegler syndrome associated with a nonsense mutation in the CYLD tumor suppressor gene.
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- Experimental Dermatology, 2006, v. 15, n. 12, p. 966, doi. 10.1111/j.1600-0625.2006.00501.x
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- Publication type:
- Article
EP04.13: Parental origin of autosomal trisomies and triploidies prenatally diagnosed by QF‐PCR.
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- Ultrasound in Obstetrics & Gynecology, 2019, v. 54, p. 252, doi. 10.1002/uog.21168
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- Publication type:
- Article
Fetal cardiac axis in tetralogy of Fallot: associations with prenatal findings, genetic anomalies and postnatal outcome.
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- Ultrasound in Obstetrics & Gynecology, 2017, v. 50, n. 1, p. 58, doi. 10.1002/uog.15998
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- Publication type:
- Article
Nasal bone length, prenasal thickness, prenasal thickness-to-nasal bone length ratio and prefrontal space ratio in second- and third-trimester fetuses with Down syndrome.
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- Ultrasound in Obstetrics & Gynecology, 2015, v. 45, n. 2, p. 211, doi. 10.1002/uog.13391
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- Publication type:
- Article
Interlocus non-random association of multiallelic polymorphisms spanning the coagulation factor VIII gene on human chromosome distalmost Xq28.
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- Haemophilia, 2010, v. 16, n. 3, p. 525, doi. 10.1111/j.1365-2516.2009.02161.x
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- Article
Comparison of the types of child utterances mothers expand in children with language delays and with Down's syndrome.
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- Journal of Intellectual Disability Research, 1996, v. 40, n. 6, p. 557, doi. 10.1111/j.1365-2788.1996.tb00667.x
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- Publication type:
- Article
Hypothalamic versus pituitary dysfunction in Down's syndrome as cause of growth retardation.
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- Journal of Intellectual Disability Research, 1996, v. 40, n. 6, p. 509, doi. 10.1111/j.1365-2788.1996.tb00661.x
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- Publication type:
- Article
Growth curves of Dutch children with Down's syndrome.
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- Journal of Intellectual Disability Research, 1996, v. 40, n. 5, p. 412, doi. 10.1111/j.1365-2788.1996.tb00648.x
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- Publication type:
- Article
The recognition and investigation of X-linked learning disability syndromes.
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- Journal of Intellectual Disability Research, 1996, v. 40, n. 5, p. 400, doi. 10.1111/j.1365-2788.1996.tb00647.x
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- Publication type:
- Article
Normal ageing in adults with Down's syndrome: a longitudinal study.
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- Journal of Intellectual Disability Research, 1996, v. 40, n. 3, p. 208, doi. 10.1111/j.1365-2788.1996.tb00624.x
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- Publication type:
- Article
Trainee teachers' attitudes to inclusive education for children with Down's syndrome.
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- Journal of Intellectual Disability Research, 1996, v. 40, n. 1, p. 56, doi. 10.1111/j.1365-2788.1996.tb00603.x
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- Publication type:
- Article
Visual acuity and accommodation in infants and young children with Down's syndrome.
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- Journal of Intellectual Disability Research, 1996, v. 40, n. 1, p. 49, doi. 10.1111/j.1365-2788.1996.tb00602.x
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- Publication type:
- Article
A lethal case of atlantoaxial dislocation in a 56-year-old woman with Down's syndrome.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 447, doi. 10.1111/j.1365-2788.1995.tb00550.x
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- Publication type:
- Article
Overweight and obesity amongst Down's syndrome adults.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 437, doi. 10.1111/j.1365-2788.1995.tb00548.x
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- Publication type:
- Article
Behavioural disturbance in people with Down's syndrome and dementia.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 432, doi. 10.1111/j.1365-2788.1995.tb00547.x
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- Publication type:
- Article
Two longitudinal studies of the abilities of people with Down's syndrome.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 419, doi. 10.1111/j.1365-2788.1995.tb00546.x
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- Publication type:
- Article
Ageing in adults with Down's syndrome in institutionally based and community-based residences.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 5, p. 399, doi. 10.1111/j.1365-2788.1995.tb00544.x
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- Publication type:
- Article
Adaptive behaviour after schizophrenia in people with Down's syndrome.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 3, p. 201, doi. 10.1111/j.1365-2788.1995.tb00502.x
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- Publication type:
- Article
The effect of age on language in people with Down's syndrome.
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- Journal of Intellectual Disability Research, 1995, v. 39, n. 3, p. 197, doi. 10.1111/j.1365-2788.1995.tb00501.x
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- Publication type:
- Article
Oral zinc supplementation in Down's syndrome subjects decreased infections and normalized some humoral and cellular immune parameters.
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- Journal of Intellectual Disability Research, 1994, v. 38, n. 2, p. 149, doi. 10.1111/j.1365-2788.1994.tb00370.x
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- Publication type:
- Article
Fragile-X syndrome in North East Essex: towards systematic screening: clinical selection.
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- Journal of Intellectual Disability Research, 1994, v. 38, n. 1, p. 27, doi. 10.1111/j.1365-2788.1994.tb00344.x
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- Publication type:
- Article
The fragile-X syndrome: a growing gene causing familial intellectual disability.
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- Journal of Intellectual Disability Research, 1994, v. 38, n. 1, p. 1, doi. 10.1111/j.1365-2788.1994.tb00342.x
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- Publication type:
- Article
Piecing together the fragile-X: Fragile-X Workshop, Royal Society of Medicine, London, England, 1 July 1992.
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- Journal of Intellectual Disability Research, 1993, v. 37, n. 2, p. 201, doi. 10.1111/j.1365-2788.1993.tb00589.x
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- Publication type:
- Article
Chromosome fragility in the Lennox-Gastaut epilepsy syndrome.
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- Journal of Intellectual Disability Research, 1992, v. 36, n. 5, p. 435, doi. 10.1111/j.1365-2788.1992.tb00561.x
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- Publication type:
- Article
The Effect Of A "Selected Exercise Training" On Reducing Symptoms Of Dementia Caused By Alzheimer's Disease in People with Down Syndrome.
- Published in:
- Iranian Rehabilitation Journal, 2013, v. 11, n. 17, p. 35
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- Publication type:
- Article
Hyperkeratotic Papules in a Patient with Down Syndrome.
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- Pediatric Dermatology, 1990, v. 7, n. 3, p. 237, doi. 10.1111/j.1525-1470.1990.tb00289.x
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- Publication type:
- Article
Chronic subdural haematoma and autosomal polycystic kidney disease: Report of two new cases.
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- Nephrology, 2004, v. 9, n. 5, p. 331, doi. 10.1111/j.1440-1797.2004.00270.x
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- Publication type:
- Article
Apparent Homozygosity of p.Phe508del in CFTR due to a Large Gene Deletion of Exons 4-11.
- Published in:
- 2014
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- Publication type:
- Case Study