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  • 1-10 ل  152 نتائج ل ""Point Mutation""

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Publication : bmc medical genetics
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Academic Journal

A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review.

  • Authors : Fu J; Department of Endocrinology, Chinese Academy of Medical Sciences and Peking Union Medical College, Peking Union Medical College Hospital, Beijing, China.; Wang T

Subjects: Point Mutation*; Asian People/Asian People/Asian People/*genetics ; Glycogen Storage Disease/Glycogen Storage Disease/Glycogen Storage Disease/*genetics Glycogen Storage Disease Type Ix

  • Source: BMC medical genetics [BMC Med Genet] 2019 Mar 29; Vol. 20 (1), pp. 56. Date of Electronic Publication: 2019 Mar 29.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.

  • Authors : Petrova NV; Federal State Scientific Budgetary Institution 'Research Centre for Medical Genetics', Moscow, Russia.; Kashirskaya NY

Subjects: Point Mutation* ; Sequence Deletion*; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2019 Mar 21; Vol. 20 (1), pp. 44. Date of Electronic Publication: 2019 Mar 21.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Clinical features and genetic analysis of two siblings with startle disease in an Italian family: a case report.

  • Authors : Sprovieri T; Institute of Neurological Sciences, National Research Council, Loc. Burga, 87050, Mangone, CS, Italy.; Ungaro C

Subjects: Point Mutation*; High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/*methods ; Hyperekplexia/Hyperekplexia/Hyperekplexia/*diagnosis

  • Source: BMC medical genetics [BMC Med Genet] 2019 Mar 12; Vol. 20 (1), pp. 40. Date of Electronic Publication: 2019 Mar 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report.

  • Authors : Sheng L; Department of Hematology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, Hubei, China.; Zhang W

Subjects: Point Mutation*; Epstein-Barr Virus Infections/Epstein-Barr Virus Infections/Epstein-Barr Virus Infections/*genetics ; Lymphohistiocytosis, Hemophagocytic/Lymphohistiocytosis, Hemophagocytic/Lymphohistiocytosis, Hemophagocytic/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2019 Feb 19; Vol. 20 (1), pp. 34. Date of Electronic Publication: 2019 Feb 19.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

De novo variant of TRRAP in a patient with very early onset psychosis in the context of non-verbal learning disability and obsessive-compulsive disorder: a case report.

  • Authors : Mavros CF; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle CLS 16009, 300 Longwood Avenue, Boston, MA, 02115, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, 3 Blackfan Circle, CLSB 15031, Boston, MA, 02115, USA.

Subjects: Point Mutation*; Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/Adaptor Proteins, Signal Transducing/*genetics ; Autism Spectrum Disorder/Autism Spectrum Disorder/Autism Spectrum Disorder/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2018 Nov 13; Vol. 19 (1), pp. 197. Date of Electronic Publication: 2018 Nov 13.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Novel MEF2C point mutations in Chinese patients with Rett (-like) syndrome or non-syndromic intellectual disability: insights into genotype-phenotype correlation.

  • Authors : Wang J; Department of Pediatrics, Peking University First Hospital, No 1, Xi'anmen Street, Xicheng District, Beijing, 100034, China.; Zhang Q

Subjects: Genetic Association Studies* ; Point Mutation*; Intellectual Disability/Intellectual Disability/Intellectual Disability/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2018 Oct 30; Vol. 19 (1), pp. 191. Date of Electronic Publication: 2018 Oct 30.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.

Subjects: Hemizygote* ; Point Mutation*; Cell Cycle Proteins/Cell Cycle Proteins/Cell Cycle Proteins/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2018 May 25; Vol. 19 (1), pp. 85. Date of Electronic Publication: 2018 May 25.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

  • Authors : Youssefian L; Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Subjects: Frameshift Mutation* ; Point Mutation*; Hyaline Fibromatosis Syndrome/Hyaline Fibromatosis Syndrome/Hyaline Fibromatosis Syndrome/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2018 May 25; Vol. 19 (1), pp. 87. Date of Electronic Publication: 2018 May 25.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Possible association between ABCC8 C49620T polymorphism and type 2 diabetes in a Nigerian population.

  • Authors : Engwa GA; Biochemistry, Department of Chemical Sciences, Godfrey Okoye University, P.M.B 01014, Thinkers Corner, Enugu, Nigeria. .; Department of Biotechnology, Ebonyi State University, P.M.B. 53, Abakaliki, Nigeria. .

Subjects: Point Mutation*; Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/Diabetes Mellitus, Type 2/*genetics ; Genetic Association Studies/Genetic Association Studies/Genetic Association Studies/*methods

  • Source: BMC medical genetics [BMC Med Genet] 2018 May 12; Vol. 19 (1), pp. 78. Date of Electronic Publication: 2018 May 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family.

  • Authors : Alías L; Department Genetics, Hospital de la Santa Creu i Sant Pau, Pare Claret, 167, 08025, Barcelona, Spain. .; CIBERER (U705), Barcelona, Spain. .

Subjects: Mutation* ; Point Mutation*; Corneal Diseases/Corneal Diseases/Corneal Diseases/*genetics Microspherophakia

  • Source: BMC medical genetics [BMC Med Genet] 2018 May 11; Vol. 19 (1), pp. 77. Date of Electronic Publication: 2018 May 11.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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  • 1-10 ل  152 نتائج ل ""Point Mutation""