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

Search Results

Filter
  • 1-10 of  4,995 results for ""DNA Mutational Analysis""
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

Second transplantation after kidney graft loss in primary hyperoxaluria type 2: a pedigree study and mutation analysis.

  • Authors : Peng Y; Department of Transplantation, Nanfang Hospital, Southern Medical University, Guangzhou, China.; Zheng Y

Subjects: Kidney Transplantation*/Kidney Transplantation*/Kidney Transplantation*/adverse effects ; Hyperoxaluria, Primary*/Hyperoxaluria, Primary*/Hyperoxaluria, Primary*/genetics ; Hyperoxaluria, Primary*/Hyperoxaluria, Primary*/Hyperoxaluria, Primary*/surgery Primary hyperoxaluria type 2

  • Source: Renal failure [Ren Fail] 2024 Dec; Vol. 46 (2), pp. 2417743. Date of Electronic Publication: 2024 Oct 24.Publisher: Informa Healthcare Country of Publication: England NLM ID: 8701128 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

×
Academic Journal

Special clinical features with a novel mutation site of CHN1 gene in a Chinese family with Duane retraction syndrome.

  • Authors : Wang M; Department of Ophthalmology, Peking University Third Hospital, Beijing.; Key Laboratory of Restoration of Damaged Ocular Nerve, Peking University Third Hospital, Beijing.

Subjects: Duane Retraction Syndrome*/Duane Retraction Syndrome*/Duane Retraction Syndrome*/genetics ; Duane Retraction Syndrome*/Duane Retraction Syndrome*/Duane Retraction Syndrome*/physiopathology ; Mutation*

  • Source: Strabismus [Strabismus] 2024 Mar; Vol. 32 (1), pp. 23-29. Date of Electronic Publication: 2024 Mar 20.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9310896 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

×
Academic Journal

Whole genome sequencing reveals a de novo SHANK3 mutation in familial autism spectrum disorder.

  • Authors : Nemirovsky SI; Plataforma de Bioinformática Argentina, Instituto de Cálculo, Pabellón 2, Ciudad Universitaria, Facultad de Ciencias Exactas y Naturales, UBA, Buenos Aires, Argentina.; Córdoba M

Subjects: DNA Mutational Analysis* ; Genomics* ; Mutation*

  • Source: PloS one [PLoS One] 2015 Feb 03; Vol. 10 (2), pp. e0116358. Date of Electronic Publication: 2015 Feb 03 (Print Publication: 2015).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

Record details

×
Academic Journal

Identification of a novel homozygous mutation, TMPRSS3: c.535G>A, in a Tibetan family with autosomal recessive non-syndromic hearing loss.

  • Authors : Fan D; Department of Otolaryngology-Head and Neck Surgery, the First Hospital of Jilin University, Changchun, Jilin Province, China; Tibet University School of Medicine, Lhasa, China.

Subjects: DNA Mutational Analysis* ; Homozygote* ; Mutation*

  • Source: PloS one [PLoS One] 2014 Dec 04; Vol. 9 (12), pp. e114136. Date of Electronic Publication: 2014 Dec 04 (Print Publication: 2014).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

Record details

×
Academic Journal

Congenital factor XIII deficiency in Pakistan: characterization of seven families and identification of four novel mutations.

  • Authors : Borhany M; Department of Haematology, Haemostasis & Thrombosis, National Institute of Blood Disease and Bone Marrow Transplantation (NIBD), Karachi, Pakistan.; Handrkova H

Subjects: DNA Mutational Analysis* ; Mutation* ; Pedigree*

  • Source: Haemophilia : the official journal of the World Federation of Hemophilia [Haemophilia] 2014 Jul; Vol. 20 (4), pp. 568-74. Date of Electronic Publication: 2013 Dec 16.Publisher: Blackwell Science Country of Publication: England NLM ID: 9442916 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

×
Academic Journal

Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.

  • Authors : Maiwald S; Department of Vascular Medicine, Academic Medical Centre, Amsterdam, the Netherlands; Department of Experimental Vascular Medicine, Academic Medical Centre, Amsterdam, the Netherlands.

Subjects: DNA Mutational Analysis* ; Genetic Linkage* ; Mutation*

  • Source: PloS one [PLoS One] 2014 May 30; Vol. 9 (5), pp. e98289. Date of Electronic Publication: 2014 May 30 (Print Publication: 2014).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

Record details

×
Academic Journal

Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia.

  • Authors : Lu Z; Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, Nanning, P. R. China.; Nikuze L

Subjects: Genetic Association Studies* ; Genetic Predisposition to Disease* ; Mutation*

  • Source: Platelets [Platelets] 2020; Vol. 31 (3), pp. 355-359. Date of Electronic Publication: 2019 May 14.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9208117 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

×
Academic Journal

Exome sequencing analysis identifies compound heterozygous mutation in ABCA4 in a Chinese family with Stargardt disease.

  • Authors : Zhou Y; Sichuan Provincial Key Laboratory for Human Disease Gene Study and Institute of Laboratory Medicine, Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, Sichuan, China; School of Medicine, University of Electronic Science and Technology of China, Chengdu, Sichuan, China

Subjects: DNA Mutational Analysis* ; Heterozygote* ; Pedigree*

  • Source: PloS one [PLoS One] 2014 Mar 14; Vol. 9 (3), pp. e91962. Date of Electronic Publication: 2014 Mar 14 (Print Publication: 2014).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

Record details

×
Academic Journal

Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years.

  • Authors : Hinderhofer K; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.; Fischer C

Subjects: DNA Mutational Analysis* ; Mutation* ; Pedigree*

  • Source: PloS one [PLoS One] 2014 Mar 12; Vol. 9 (3), pp. e91374. Date of Electronic Publication: 2014 Mar 12 (Print Publication: 2014).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

Record details

×
Academic Journal

Targeted exome sequencing identified novel USH2A mutations in Usher syndrome families.

  • Authors : Huang XF; Division of Ophthalmic Genetics, Laboratory for Stem Cell & Retinal Regeneration, The Eye Hospital of Wenzhou Medical College, Wenzhou, China.; Xiang P

Subjects: DNA Mutational Analysis* ; Mutation* ; Pedigree*

  • Source: PloS one [PLoS One] 2013 May 30; Vol. 8 (5), pp. e63832. Date of Electronic Publication: 2013 May 30 (Print Publication: 2013).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: Electronic-Print Cited Medium: Internet

Record details

×
  • 1-10 of  4,995 results for ""DNA Mutational Analysis""