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Academic Journal

A case of revertant mosaic-like normal-looking spots in a patient with erythroderma with IL36RN and CARD14 heterozygous mutations.

  • Authors : Matsuo M; Department of Dermatology, Gifu University Graduate School of Medicine, Gifu, Japan.; Zang X

Subjects: CARD Signaling Adaptor Proteins*/CARD Signaling Adaptor Proteins*/CARD Signaling Adaptor Proteins*/genetics ; Dermatitis, Exfoliative*/Dermatitis, Exfoliative*/Dermatitis, Exfoliative*/genetics ; Dermatitis, Exfoliative*/Dermatitis, Exfoliative*/Dermatitis, Exfoliative*/diagnosis

  • Source: The Journal of dermatology [J Dermatol] 2024 Dec; Vol. 51 (12), pp. 1669-1673. Date of Electronic Publication: 2024 Oct 07.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 7600545 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Dystrophic epidermolysis bullosa characterized by mucosal lesions in a Chinese familial case with a novel compound heterozygous mutation of COL7A1.

  • Authors : Lan Q; Department of Oral Medicine, Peking University School and Hospital of Stomatology, National Center for Stomatology, National Clinical Research Center for Oral Diseases, National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing, China.; Hua H

Subjects: Collagen Type VII*/Collagen Type VII*/Collagen Type VII*/genetics ; Epidermolysis Bullosa Dystrophica*/Epidermolysis Bullosa Dystrophica*/Epidermolysis Bullosa Dystrophica*/genetics ; Epidermolysis Bullosa Dystrophica*/Epidermolysis Bullosa Dystrophica*/Epidermolysis Bullosa Dystrophica*/pathology

  • Source: The Journal of dermatology [J Dermatol] 2024 Dec; Vol. 51 (12), pp. 1707-1710. Date of Electronic Publication: 2024 Jul 22.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 7600545 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Heterozygous loss of function variants in IFT140 are associated with polycystic kidney disease.

Subjects: Heterozygote* ; Carrier Proteins*/Carrier Proteins*/Carrier Proteins*/genetics; Humans

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Dec; Vol. 194 (12), pp. e63841. Date of Electronic Publication: 2024 Aug 13.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Academic Journal

Beta-thalassaemia intermedia due to a complex alpha-globin rearrangement and a heterozygous beta thalassaemia mutation.

  • Authors : Marin V; Laboratory of Biochemistry, University Hospital Centre Bordeaux, Bordeaux, France.; University of Bordeaux, Inserm, UMR1312, BRIC, BoRdeaux Institute of Oncology, Bordeaux, Aquitaine, France.

Subjects: beta-Thalassemia*/beta-Thalassemia*/beta-Thalassemia*/genetics ; alpha-Globins*/alpha-Globins*/alpha-Globins*/genetics ; Heterozygote*

  • Source: British journal of haematology [Br J Haematol] 2024 Nov; Vol. 205 (5), pp. 1959-1962. Date of Electronic Publication: 2024 Aug 18.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Long-term clinical observation of patients with heterozygous KIF1A variants.

  • Authors : Kawashima A; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, Japan.; Kodama K

Subjects: Kinesins*/Kinesins*/Kinesins*/genetics ; Heterozygote*; Humans

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63656. Date of Electronic Publication: 2024 May 17.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Academic Journal

Two novel compound heterozygous HOXB1 variants in congenital facial palsy: A case report and a brief review of the literature.

  • Authors : Brugnoli C; Struttura Complessa di Neuropsichiatria Infantile, Dipartimento Materno-Infantile, Arcispedale Santa Maria Nuova, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.; Rizzi S

Subjects: Homeodomain Proteins*/Homeodomain Proteins*/Homeodomain Proteins*/genetics ; Facial Paralysis*/Facial Paralysis*/Facial Paralysis*/genetics ; Facial Paralysis*/Facial Paralysis*/Facial Paralysis*/diagnosis Facial paresis, hereditary, congenital

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63848. Date of Electronic Publication: 2024 Sep 05.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Academic Journal

Novel heterozygous OPA3 variant in a family with congenital cataracts, sensorineural hearing loss and neuropathy, without optic atrophy and comparison of pathogenic and population variants.

  • Authors : Penon-Portmann M; University of California, San Francisco, San Francisco, California, USA.; University of Washington, Seattle, Washington, USA.

Subjects: Cataract*/Cataract*/Cataract*/genetics ; Cataract*/Cataract*/Cataract*/pathology ; Cataract*/Cataract*/Cataract*/congenital

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Jan; Vol. 197 (1), pp. e63846. Date of Electronic Publication: 2024 Aug 21.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Academic Journal

Clinical and molecular characteristics of hemophilia A affected individuals and carriers: A 24 years experience from three centers.

  • Authors : Ho SKL; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Hong Kong SAR, China.; Ng SYL

Subjects: Hemophilia A*/Hemophilia A*/Hemophilia A*/genetics ; Hemophilia A*/Hemophilia A*/Hemophilia A*/pathology ; Hemophilia A*/Hemophilia A*/Hemophilia A*/epidemiology

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63657. Date of Electronic Publication: 2024 May 15.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited

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Academic Journal

Prevalence and Clinical Characteristics of Heterozygous RNF213 p.Arg4810Lys Variant Carriers Diagnosed With Chronic Thromboembolic Pulmonary Hypertension.

  • Authors : Kiko T; Division of Pulmonary Circulation, Department of Cardiovascular Medicine National Cerebral and Cardiovascular Center Osaka Japan.; Asano R

Subjects: Pulmonary Embolism*/Pulmonary Embolism*/Pulmonary Embolism*/genetics ; Pulmonary Embolism*/Pulmonary Embolism*/Pulmonary Embolism*/epidemiology ; Heterozygote*

  • Source: Journal of the American Heart Association [J Am Heart Assoc] 2024 Aug 06; Vol. 13 (15), pp. e035009. Date of Electronic Publication: 2024 Jul 26.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited

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Academic Journal

GATA2 heterozygosity causes an epigenetic feedback mechanism resulting in myeloid and erythroid dysplasia.

  • Authors : Gioacchino E; Department of Hematology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands.; Zhang W

Subjects: Zebrafish* ; GATA2 Transcription Factor*/GATA2 Transcription Factor*/GATA2 Transcription Factor*/genetics ; Epigenesis, Genetic*

  • Source: British journal of haematology [Br J Haematol] 2024 Aug; Vol. 205 (2), pp. 580-593. Date of Electronic Publication: 2024 Jun 18.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 0372544 Publication Model: Print-Electronic Cited Medium:

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  • 1-10 of  35,138 results for ""Heterozygote""