Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request

نتائج البحث

Display Settings
النتائج لكل صفحة: 10
Sort By: Relevance
Filter
  • 1-10 ل  4,877 نتائج ل ""Chromosome Deletion""

فلترة النتائج

إعادة تعيين خيارات الفبترة
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.

  • Authors : Ren R; Department of Neurorehabilitation, Affiliated Women's and Children's Hospital of Qingdao University, No. 6 Tongfu Road, Qingdao, 266000, Shandong, China.; Liu Y

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Chromosomes, Human, Pair 9*/Chromosomes, Human, Pair 9*/Chromosomes, Human, Pair 9*/genetics ; Chromosome Deletion* Kleefstra Syndrome

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Dec 18; Vol. 17 (1), pp. 290. Date of Electronic Publication: 2024 Dec 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Prenatal diagnosis and molecular cytogenetic analysis of pure chromosome 10p15.3 microdeletion using chromosomal microarray analysis.

  • Authors : Zhang N; Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou, Fujian Province, 362000, China.; Huang N

Subjects: Chromosome Deletion* ; Chromosomes, Human, Pair 10*/Chromosomes, Human, Pair 10*/Chromosomes, Human, Pair 10*/genetics ; Prenatal Diagnosis*

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Dec 18; Vol. 17 (1), pp. 287. Date of Electronic Publication: 2024 Dec 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Molecular Genetic and Clinical Characteristics of Fetuses With Chromosome 16 Short-Arm Microdeletions/Microduplications.

  • Authors : Cai M; Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Clinical Research Center for Maternal-Fetal Medicine, National Key Obstetric Clinical Specialty Construction Institution of China, Fuzhou, China.; Lin N

Subjects: Chromosomes, Human, Pair 16*/Chromosomes, Human, Pair 16*/Chromosomes, Human, Pair 16*/genetics ; Chromosome Deletion*; Humans

  • Source: Journal of clinical laboratory analysis [J Clin Lab Anal] 2024 Dec; Vol. 38 (24), pp. e25132. Date of Electronic Publication: 2024 Dec 12.Publisher: Wiley Country of Publication: United States NLM ID: 8801384 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-2825

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Event-free survival in neuroblastoma with MYCN amplification and deletion of 1p or 11q may be associated with altered immune status.

  • Authors : Wei Z; Department of Pediatric Oncology, Key Laboratory of Cancer Prevention and Therapy of Tianjin, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin's Clinical Research Center for Cancer, West Huan-Hu Rd, Ti Yuan Bei, Hexi District, 300060, Tianjin, Tianjin, China.; Key Laboratory of Cancer Prevention and Therapy, Tianjin, China.

Subjects: Neuroblastoma*/Neuroblastoma*/Neuroblastoma*/genetics ; Neuroblastoma*/Neuroblastoma*/Neuroblastoma*/mortality ; Neuroblastoma*/Neuroblastoma*/Neuroblastoma*/immunology

  • Source: BMC cancer [BMC Cancer] 2024 Oct 15; Vol. 24 (1), pp. 1279. Date of Electronic Publication: 2024 Oct 15.Publisher: BioMed Central Country of Publication: England NLM ID: 100967800 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2407

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry.

  • Authors : Yin R; Department of Biomedical Informatics, Harvard Medical School, Boston, MA, 02115, USA.; Department of Health Outcomes and Biomedical Informatics, University of Florida, Gainesville, FL, USA.

Subjects: Registries* ; Chromosome Deletion* ; Chromosomes, Human, Pair 22*/Chromosomes, Human, Pair 22*/Chromosomes, Human, Pair 22*/genetics Telomeric 22q13 Monosomy Syndrome

  • Source: Molecular autism [Mol Autism] 2024 Sep 30; Vol. 15 (1), pp. 40. Date of Electronic Publication: 2024 Sep 30.Publisher: BioMed Central Country of Publication: England NLM ID: 101534222 Publication Model: Electronic Cited Medium: Internet ISSN: 2040-2392

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Establishment of human pluripotent stem cell-derived cortical neurosphere model to study pathomechanisms and chemical toxicity in Kleefstra syndrome.

Subjects: Chromosome Deletion* ; Chromosomes, Human, Pair 9*/Chromosomes, Human, Pair 9*/Chromosomes, Human, Pair 9*/genetics ; Spheroids, Cellular*/Spheroids, Cellular*/Spheroids, Cellular*/drug effects Kleefstra Syndrome

  • Source: Scientific reports [Sci Rep] 2024 Sep 29; Vol. 14 (1), pp. 22572. Date of Electronic Publication: 2024 Sep 29.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies.

  • Authors : Pang Y; Department of Pediatrics, Sichuan Provincial Maternity and Child Health Care Hospital, Chengdu, China.; Zeng L

Subjects: Chromosome Deletion* ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/pathology

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Sep; Vol. 12 (9), pp. e70005.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.

  • Authors : Skvortsova L; Laboratory of Molecular Genetics, Institute of Genetics and Physiology, Almaty, 050060, Kazakhstan.; Perfilyeva A

Subjects: Chromosome Deletion* ; Chromosomes, Human, Pair 7*/Chromosomes, Human, Pair 7*/Chromosomes, Human, Pair 7*/genetics ; Epilepsy*/Epilepsy*/Epilepsy*/genetics

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 16; Vol. 19 (1), pp. 301. Date of Electronic Publication: 2024 Aug 16.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Visual-Motor Integration Deficits in 3q29 Deletion Syndrome.

  • Authors : Pollak RM; Center for Advanced Biotechnology and Medicine and Department of Psychiatry, Robert Wood Johnson Medical School, Rutgers University, 679 Hoes Lane West, Piscataway, NJ, 08854, USA.; Burrell TL

Subjects: Chromosome Deletion* ; Chromosomes, Human, Pair 3*/Chromosomes, Human, Pair 3*/Chromosomes, Human, Pair 3*/genetics ; Psychomotor Performance*/Psychomotor Performance*/Psychomotor Performance*/physiologyChromosome 3q29 Deletion Syndrome

  • Source: Journal of autism and developmental disorders [J Autism Dev Disord] 2024 Aug; Vol. 54 (8), pp. 3142-3154. Date of Electronic Publication: 2023 Jun 24.Publisher: Springer Country of Publication: United States NLM ID: 7904301 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Mitoferrin2 is a synthetic lethal target for chromosome 8p deleted cancers.

  • Authors : Krieg S; Helmholtz-University Group 'Cell Plasticity and Epigenetic Remodeling', German Cancer Research Center (DKFZ), Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.; Rohde T

Subjects: Chromosomes, Human, Pair 8*/Chromosomes, Human, Pair 8*/Chromosomes, Human, Pair 8*/genetics ; Chromosome Deletion* ; Neoplasms*/Neoplasms*/Neoplasms*/genetics

  • Source: Genome medicine [Genome Med] 2024 Jun 17; Vol. 16 (1), pp. 83. Date of Electronic Publication: 2024 Jun 17.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
  • 1-10 ل  4,877 نتائج ل ""Chromosome Deletion""