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  • 1-10 ل  111 نتائج ل ""Chromosome Deletion""
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Academic Journal

Normal fertility with deletion of sY84 and sY86 in AZFa region.

  • Authors : Tang D; Reproductive Medicine Center, Department of Obstetrics and Gynecology, Anhui Province Key Laboratory of Reproductive Health and Genetics, Biopreservation and Artificial Organs, the First Affiliated Hospital of Anhui Medical University, Anhui Provincial Engineering Research Center, Anhui Medical University, Hefei, China.; Liu W

Subjects: Chromosome Deletion*; Chromosomes, Human, Y/Chromosomes, Human, Y/Chromosomes, Human, Y/*genetics ; Fertility/Fertility/Fertility/*genetics

  • Source: Andrology [Andrology] 2020 Mar; Vol. 8 (2), pp. 332-336. Date of Electronic Publication: 2019 Sep 26.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101585129 Publication Model: Print-Electronic Cited

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Academic Journal

Genotype-phenotype correlation and the size of microdeletion or microduplication of 7q11.23 region in patients with Williams-Beuren syndrome.

  • Authors : Ghaffari M; Departement of Medical Genetics, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.; Tahmasebi Birgani M

Subjects: Chromosome Deletion* ; Chromosome Duplication* ; Genetic Association Studies*

  • Source: Annals of human genetics [Ann Hum Genet] 2018 Nov; Vol. 82 (6), pp. 469-476. Date of Electronic Publication: 2018 Aug 29.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Deletion at 12q12 increases the risk of developmental delay and intellectual disability.

  • Authors : Weng Y; Department of Paediatrics, Tongji Hospital, Tongji Medical School, Huazhong University of Science and Technology, Wuhan, Hubei, China.; Luo X

Subjects: Chromosome Deletion*; Chromosomes, Human, Pair 12/Chromosomes, Human, Pair 12/Chromosomes, Human, Pair 12/*genetics ; Developmental Disabilities/Developmental Disabilities/Developmental Disabilities/*genetics

  • Source: Annals of human genetics [Ann Hum Genet] 2018 Nov; Vol. 82 (6), pp. 482-487. Date of Electronic Publication: 2018 Aug 29.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Altering patterns of sensorimotor network in patients with different pathological diagnoses and glioma-related epilepsy under the latest glioma classification of the central nervous system.

  • Authors : Fang S; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; Beijing Neurosurgical Institute, Beijing, China.

Subjects: Brain Neoplasms*/Brain Neoplasms*/Brain Neoplasms*/genetics ; Brain Neoplasms*/Brain Neoplasms*/Brain Neoplasms*/pathology ; Glioma*/Glioma*/Glioma*/pathology

  • Source: CNS neuroscience & therapeutics [CNS Neurosci Ther] 2023 May; Vol. 29 (5), pp. 1368-1378. Date of Electronic Publication: 2023 Feb 05.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101473265 Publication Model: Print-Electronic Cited

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Academic Journal

Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1.

  • Authors : Nicita F; Child Neurology Division, Department of Pediatrics, Sapienza University, Rome, Italy.; Ulgiati F

Subjects: Chromosome Deletion*; Spasms, Infantile/Spasms, Infantile/Spasms, Infantile/*genetics; Carrier Proteins/Carrier Proteins/Carrier Proteins/genetics Epileptic Encephalopathy, Early Infantile, 3

  • Source: Annals of human genetics [Ann Hum Genet] 2015 May; Vol. 79 (3), pp. 209-17. Date of Electronic Publication: 2015 Mar 16.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Large chromosome deletions, duplications, and gene conversion events accumulate with age in normal human colon crypts.

  • Authors : Hsieh JC; USC Norris Comprehensive Cancer Center, University of Southern California Keck School of Medicine, 1441 Eastlake Ave., MC9176, Los Angeles, CA 90089, USA.; Van Den Berg D

Subjects: Chromosome Deletion* ; Chromosome Duplication* ; Gene Conversion*

  • Source: Aging cell [Aging Cell] 2013 Apr; Vol. 12 (2), pp. 269-79. Date of Electronic Publication: 2013 Mar 11.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101130839 Publication Model: Print-Electronic Cited

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Academic Journal

Clinical and genetic findings in TRPM1-related congenital stationary night blindness.

  • Authors : Iosifidis C; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.; Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.

Subjects: Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/diagnosis ; Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/Eye Diseases, Hereditary*/genetics ; Genetic Diseases, X-Linked*/Genetic Diseases, X-Linked*/Genetic Diseases, X-Linked*/diagnosis Chromosome 15q13.3 Microdeletion Syndrome; Night blindness, congenital stationary

  • Source: Acta ophthalmologica [Acta Ophthalmol] 2022 Sep; Vol. 100 (6), pp. e1332-e1339. Date of Electronic Publication: 2022 May 28.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited

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Academic Journal

Delineation of subtelomeric deletion of the long arm of chromosome 6.

  • Authors : Lee JY; Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA. ; Cho YH

Subjects: Chromosome Deletion*; Chromosomes, Human, Pair 6 ; Humans Chromosome 6, monosomy 6q

  • Source: Annals of human genetics [Ann Hum Genet] 2011 Nov; Vol. 75 (6), pp. 755-64. Date of Electronic Publication: 2011 Sep 22.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0416661 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review.

  • Authors : De Smedt B; Centre for Parenting, Child Welfare and Disabilities, Katholieke Universiteit Leuven, Leuven, Belgium. ; Swillen A

Subjects: Chromosome Deletion* ; Mathematics*; Chromosomes, Human, Pair 22/Chromosomes, Human, Pair 22/Chromosomes, Human, Pair 22/*genetics

  • Source: Developmental disabilities research reviews [Dev Disabil Res Rev] 2009; Vol. 15 (1), pp. 4-10.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101319448 Publication Model: Print Cited Medium:

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Academic Journal

Candidate genes and the behavioral phenotype in 22q11.2 deletion syndrome.

  • Authors : Prasad SE; Department of Psychiatry, Royal College of Surgeons in Ireland, Education and Research Centre, Beaumont Hospital, Dublin 9, Republic of Ireland. ; Howley S

Subjects: Chromosome Deletion* ; Phenotype*; Chromosomes, Human, Pair 22/Chromosomes, Human, Pair 22/Chromosomes, Human, Pair 22/*genetics

  • Source: Developmental disabilities research reviews [Dev Disabil Res Rev] 2008; Vol. 14 (1), pp. 26-34.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101319448 Publication Model: Print Cited Medium:

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  • 1-10 ل  111 نتائج ل ""Chromosome Deletion""