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  631 نتائج ل ""Kidney Diseases, Cystic""

فلترة النتائج

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

Identification of a Novel Deletion Variant (c.2999_3005delTGTGTGT/p.Asn1000SerfsTer4) in NPHP4 Associated With Nephronophthisis-4.

  • Authors : Miri Karam Z; Department of Medical Genetics, Afzalipour Faculty of Medicine, Kerman University of Medical Sciences, Kerman, Iran.; Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman, Iran.

Subjects: Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/genetics ; Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/pathology ; Pedigree*Nephronophthisis 4

  • Source: Journal of clinical laboratory analysis [J Clin Lab Anal] 2024 Jun; Vol. 38 (11-12), pp. e25077. Date of Electronic Publication: 2024 Jun 19.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

Expanding the Phenotypic Spectrum of Pathogenic KIAA0586 Variants: From Joubert Syndrome to Hydrolethalus Syndrome.

  • Authors : Deconte D; Programa de Pós-Graduação em Patologia, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre 90050-170, Brazil.; Diniz BL

Subjects: Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/genetics ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/pathology ; Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/genetics Agenesis of Cerebellar Vermis

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 19; Vol. 25 (14). Date of Electronic Publication: 2024 Jul 19.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Carbonic Anhydrase 2 Deletion Delays the Growth of Kidney Cysts Whereas Foxi1 Deletion Completely Abrogates Cystogenesis in TSC.

  • Authors : Barone S; Research Services, New Mexico Veterans Health Care System, Albuquerque, NM 87108, USA.; Department of Medicine, Division of Nephrology, University of New Mexico Health Sciences Center, Albuquerque, NM 87131, USA.

Subjects: Carbonic Anhydrase II*/Carbonic Anhydrase II*/Carbonic Anhydrase II*/genetics ; Carbonic Anhydrase II*/Carbonic Anhydrase II*/Carbonic Anhydrase II*/metabolism ; Forkhead Transcription Factors*/Forkhead Transcription Factors*/Forkhead Transcription Factors*/genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Apr 27; Vol. 25 (9). Date of Electronic Publication: 2024 Apr 27.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Development of crizotinib-associated renal cyst in a non-small cell lung cancer patient with ALK fusion: a case report and review of the literature.

  • Authors : Zhang P; Six Departments of Oncology, Longhua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine, Shanghai, China.; Xu J

Subjects: Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/drug therapy ; Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/genetics ; Lung Neoplasms*/Lung Neoplasms*/Lung Neoplasms*/drug therapy

  • Source: Diagnostic pathology [Diagn Pathol] 2024 Apr 14; Vol. 19 (1), pp. 58. Date of Electronic Publication: 2024 Apr 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101251558 Publication Model: Electronic Cited Medium: Internet ISSN: 1746-1596

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

High Incidence of CPLANE1 -Related Joubert Syndrome in the Products of Conceptions from Early Pregnancy Losses

  • Authors : Bozhinovski G; Research Center for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Skopje, North Macedonia; Contributed equally

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/epidemiology ; Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics ; Abortion, Spontaneous*/Abortion, Spontaneous*/Abortion, Spontaneous*/etiology Agenesis of Cerebellar Vermis

  • Source: Balkan medical journal [Balkan Med J] 2024 Mar 01; Vol. 41 (2), pp. 97-104. Date of Electronic Publication: 2024 Feb 14.Publisher: Galenos Publishing House Country of Publication: Turkey NLM ID: 101571817 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Syndromic ciliopathy: a taiwanese single-center study.

  • Authors : Pan YW; Department of Pediatrics, College of Medicine, National Cheng Kung University Hospital, National Cheng Kung University, No. 138, Shengli Rd., North Dist, Tainan, 70403, Taiwan, Republic of China.; Ou TY

Subjects: Ciliopathies*/Ciliopathies*/Ciliopathies*/genetics ; Proteins* ; Kidney Diseases, Cystic*Agenesis of Cerebellar Vermis

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Apr 26; Vol. 17 (1), pp. 106. Date of Electronic Publication: 2024 Apr 26.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
×
Report

First case of nodular dermatofibrosis with cystic renal disease in a beagle: An atypical case without FLCN gene mutation.

Subjects: Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/veterinary ; Dog Diseases*/Dog Diseases*/Dog Diseases*/diagnosis ; Dog Diseases*/Dog Diseases*/Dog Diseases*/genetics

  • Source: Veterinary medicine and science [Vet Med Sci] 2024 Mar; Vol. 10 (2), pp. e1401.Publisher: John Wiley & Sons Ltd Country of Publication: England NLM ID: 101678837 Publication Model: Print Cited Medium: Internet ISSN:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Decline in measured glomerular filtration rate is associated with simple renal cyst in Chinese patients with type 2 diabetes.

  • Authors : Qiaoling F; Department of Endocrinology and Metabolism, Haikou Orthopedic and Diabetes Hospital, Hainan, China.; Jingyi L

Subjects: Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/complications ; Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/epidemiology ; Kidney Diseases, Cystic*

  • Source: Journal of diabetes investigation [J Diabetes Investig] 2024 Jan; Vol. 15 (1), pp. 26-33. Date of Electronic Publication: 2023 Dec 11.Publisher: Asian Association for the Study of Diabetes and Blackwell Pub. Asia Country of Publication: Japan NLM ID: 101520702 Publication Model:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Autosomal Recessive Adolescent Syndromic Nephronophthisis Caused by a Novel Compound Heterozygous Pathogenic Variant.

  • Authors : Ajiboye O; Department of Medicine, Renal Division, Emory University School of Medicine, Atlanta, GA, USA.; Vengoechea JE

Subjects: Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/diagnosis ; Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/genetics ; Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/pathology Nephronophthisis 3

  • Source: The American journal of case reports [Am J Case Rep] 2023 Nov 22; Vol. 24, pp. e941413. Date of Electronic Publication: 2023 Nov 22.Publisher: International Scientific Information, Inc Country of Publication: United States NLM ID: 101489566 Publication Model: Electronic Cited Medium:

تفاصيل العنوان

اقرأ على الانترنت اقرأ أكثر حفظ في قائمتي
×
Academic Journal

Novel variants identified in five Chinese families with Joubert Syndrome: a case report.

  • Authors : Fang L; Pediatric Neurorehabilitation Center, Pediatric Department, The First Affiliated Hospital of Anhui Medical University, Hefei, 230000, China.; Wang L

Subjects: Abnormalities, Multiple*/Abnormalities, Multiple*/Abnormalities, Multiple*/genetics ; Eye Abnormalities*/Eye Abnormalities*/Eye Abnormalities*/genetics ; Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/Kidney Diseases, Cystic*/geneticsAgenesis of Cerebellar Vermis

  • Source: BMC medical genomics [BMC Med Genomics] 2023 Sep 21; Vol. 16 (1), pp. 221. Date of Electronic Publication: 2023 Sep 21.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
×
  • 1-10 ل  631 نتائج ل ""Kidney Diseases, Cystic""