Search Results

Display Settings
Results per page: 10
Sort By: Relevance
Filter
  • 1-10 of  97,628 results for ""Mutation""

Your Filters

Language : french
Reset filters
Item request has been placed! ×
Item request cannot be made. ×
loading  Processing Request
Academic Journal

[Neurodevelopmental impact of a mutation in the RHOBTB2 gene].

Subjects: Mutation*; Humans ; Animals

  • Source: Revue medicale de Liege [Rev Med Liege] 2024 Jul; Vol. 79 (7-8), pp. 467-470.Publisher: Hopital De Baviere Country of Publication: Belgium NLM ID: 0404317 Publication Model: Print Cited Medium: Print ISSN: 0370-629X

Record details

Read More Add to Saved list
×
Academic Journal

A 3-year-old Tanzanian Female with Glucose-6-Phosphate Dehydrogenase A- and a Novel Heterozygous PIEZO1 Mutation (2744A>G, N915S) Presenting with Severe Hemolytic Anemia.

  • Authors : Fustino NJ; Division of Pediatric Hematology-Oncology, Blank Children's Hospital/Unity Point Health, Des Moines, Iowa, USA.; Beck R

Subjects: Anemia, Hemolytic*/Anemia, Hemolytic*/Anemia, Hemolytic*/genetics ; Mutation* ; Ion Channels*/Ion Channels*/Ion Channels*/genetics

  • Source: Annals of African medicine [Ann Afr Med] 2024 Oct 01; Vol. 23 (4), pp. 743-747. Date of Electronic Publication: 2024 Aug 13.Publisher: Medknow Publications Country of Publication: India NLM ID: 101231417 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

TTCT 1471 mutation in lysnuric protein intolerance: Clinical features of a Tunisian paediatric series.

  • Authors : Jbebli E; Children's medicine department A, Bechir Hamza children's hospital.; Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia.

Subjects: Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/genetics ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/diagnosis ; Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/Amino Acid Metabolism, Inborn Errors*/therapy Lysinuric Protein Intolerance

  • Source: La Tunisie medicale [Tunis Med] 2024 May 05; Vol. 102 (5), pp. 284-288. Date of Electronic Publication: 2024 May 05.Publisher: Societe Tunisienne Des Sciences Medicales Country of Publication: Tunisia NLM ID: 0413766 Publication Model: Electronic Cited Medium:

Record details

Read More Add to Saved list
×
Academic Journal

[Correcting pathogenic mutations using prime editing: an overview].

  • Authors : Bouchard C; Département de médecine moléculaire, Université Laval, Québec, Canada - Centre de recherche du CHU de Québec, Université Laval, Québec, Canada.; Godbout K

Subjects: Gene Editing*/Gene Editing*/Gene Editing*/methods ; Mutation* ; CRISPR-Cas Systems*

  • Source: Medecine sciences : M/S [Med Sci (Paris)] 2024 Oct; Vol. 40 (10), pp. 748-756. Date of Electronic Publication: 2024 Oct 25.Publisher: EDK Country of Publication: France NLM ID: 8710980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1958-5381

Record details

Read More Add to Saved list
×
Academic Journal

[Acute myeloid leukemia with mutated RUNX1 at the university hospitals of Strasbourg].

  • Authors : Panaget B; Laboratoire d'Hématologie, CHU de Strasbourg, 1 avenue Molière, Strasbourg, France.; Mauvieux L

Subjects: Core Binding Factor Alpha 2 Subunit*/Core Binding Factor Alpha 2 Subunit*/Core Binding Factor Alpha 2 Subunit*/genetics ; Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/genetics ; Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/Leukemia, Myeloid, Acute*/diagnosis

  • Source: Annales de biologie clinique [Ann Biol Clin (Paris)] 2024 Aug 30; Vol. 82 (3), pp. 266-280.Publisher: John Libbey Eurotext Country of Publication: France NLM ID: 2984690R Publication Model: Print Cited Medium: Internet ISSN: 1950-6112

Record details

Read More Add to Saved list
×
Academic Journal

Fault in Our Genes: A Case of Pulmonary Thromboembolism in Young.

  • Authors : Grover T; Department of Internal Medicine, Sir Ganga Ram Hospital, New Delhi, India.; Chawla K

Subjects: Pulmonary Embolism*/Pulmonary Embolism*/Pulmonary Embolism*/drug therapy ; Pulmonary Embolism*/Pulmonary Embolism*/Pulmonary Embolism*/genetics ; Pulmonary Embolism*/Pulmonary Embolism*/Pulmonary Embolism*/diagnosis

  • Source: Annals of African medicine [Ann Afr Med] 2024 Apr 01; Vol. 23 (2), pp. 234-236. Date of Electronic Publication: 2023 Oct 24.Publisher: Medknow Publications Country of Publication: India NLM ID: 101231417 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Academic Journal

[Familial pulmonary veno-occlusive disease with a composite biallelic heterozygous EIF2AK4 mutation].

  • Authors : Treffel G; Département de pneumologie, centre de compétences de l'hypertension pulmonaire, CHU de Nancy, bâtiment Philippe-Canton, rue de Morvan, 54511 Vandœuvre-lès-Nancy, France. Electronic address: .; Guillaumot A

Subjects: Mutation*; Protein Serine-Threonine Kinases/Protein Serine-Threonine Kinases/Protein Serine-Threonine Kinases/*genetics ; Pulmonary Veno-Occlusive Disease/Pulmonary Veno-Occlusive Disease/Pulmonary Veno-Occlusive Disease/*genetics

  • Source: Revue des maladies respiratoires [Rev Mal Respir] 2020 Dec; Vol. 37 (10), pp. 823-828. Date of Electronic Publication: 2020 Oct 15.Publisher: Elsevier-Masson Country of Publication: France NLM ID: 8408032 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
Periodical

[The TNPO3 mutation that causes LGMD1F induces protection against HIV-1 infection].

  • Authors : Allamand V; Centre de Recherche en Myologie, Sorbonne Université, Inserm UMRS 974, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

Subjects: Mutation*/Mutation*/Mutation*/physiology; HIV Infections/HIV Infections/HIV Infections/*prevention & control ; HIV-1/HIV-1/HIV-1/*immunology Muscular Dystrophy, Limb-Girdle, Type 1F

  • Source: Medecine sciences : M/S [Med Sci (Paris)] 2019 Nov; Vol. 35 Hors série n° 2, pp. 45-46. Date of Electronic Publication: 2019 Dec 20.Publisher: EDK Country of Publication: France NLM ID: 8710980 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1958-5381

Record details

Read More Add to Saved list
×
Academic Journal

[Retinal artery occlusion and anterior ischemic optic neuropathy associated with factor V Leiden mutation: A case report].

  • Authors : Elleuch IE; Service d'ophtalmologie, hôpital Mohamed Taher Maamouri, Mrazka, 8000 Nabeul, Tunisie. Electronic address: .; Sayadi S

Subjects: Mutation*; Activated Protein C Resistance/Activated Protein C Resistance/Activated Protein C Resistance/*diagnosis ; Factor V/Factor V/Factor V/*genetics

  • Source: Journal francais d'ophtalmologie [J Fr Ophtalmol] 2020 Apr; Vol. 43 (4), pp. 294-297. Date of Electronic Publication: 2020 Feb 24.Publisher: Masson Country of Publication: France NLM ID: 7804128 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1773-0597

Record details

Read More Add to Saved list
×
Academic Journal

[Pulmonary fibrosis associated with hereditary fibrosing poikiloderma caused by FAM111B mutation: A case report].

  • Authors : Sanchis-Borja M; Service de pneumologie et soins intensifs, centre de compétence maladies pulmonaires rares, hôpital Européen Georges-Pompidou, AP-HP, 20, rue Leblanc, 75015 Paris, France.; Pastré J

Subjects: Mutation*; Cell Cycle Proteins/Cell Cycle Proteins/Cell Cycle Proteins/*genetics ; Pulmonary Fibrosis/Pulmonary Fibrosis/Pulmonary Fibrosis/*etiology Poikiloderma, Hereditary Sclerosing

  • Source: Revue des maladies respiratoires [Rev Mal Respir] 2018 Nov; Vol. 35 (9), pp. 968-973. Date of Electronic Publication: 2018 Oct 16.Publisher: Elsevier-Masson Country of Publication: France NLM ID: 8408032 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

Record details

Read More Add to Saved list
×
  • 1-10 of  97,628 results for ""Mutation""