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Academic Journal

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome.

  • Authors : Hiraide T; Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.

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: Journal of human genetics [J Hum Genet] 2023 Jul; Vol. 68 (7), pp. 499-505. Date of Electronic Publication: 2023 Mar 10.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.

  • Authors : Zhou X; Key Laboratory of Laboratory Medicine, Ministry of Education, Zhejiang Provincial Key Laboratory of Medical Genetics, School of Laboratory Medicine and Life sciences, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.; Lou X

Subjects: Leigh Disease*/Leigh Disease*/Leigh Disease*/genetics ; Mitochondrial Diseases*/Mitochondrial Diseases*/Mitochondrial Diseases*/genetics; Humans Mitochondrial complex I deficiency

  • Source: Journal of human genetics [J Hum Genet] 2023 Apr; Vol. 68 (4), pp. 239-246. Date of Electronic Publication: 2022 Dec 08.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.

  • Authors : Gu H; Clinical Center for Gene Diagnosis and Therapy, Department of Cardiovascular Surgery, The Second Xiangya Hospital of Central South University, Changsha, China.; Yuan ZZ

Subjects: Heterotaxy Syndrome*/Heterotaxy Syndrome*/Heterotaxy Syndrome*/genetics ; Heterotaxy Syndrome*/Heterotaxy Syndrome*/Heterotaxy Syndrome*/pathology ; Situs Inversus*/Situs Inversus*/Situs Inversus*/genetics

  • Source: Journal of human genetics [J Hum Genet] 2022 Oct; Vol. 67 (10), pp. 573-577. Date of Electronic Publication: 2022 Jun 13.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel variants causing megalencephalic leukodystrophy in Sudanese families.

  • Authors : Amin M; Faculty of Medicine, University of Khartoum, Khartoum, Sudan.; Université de Paris, NeuroDiderot, UMR 1141, INSERM, Paris, France.

Subjects: Cysts*/Cysts*/Cysts*/diagnosis ; Cysts*/Cysts*/Cysts*/genetics ; Hereditary Central Nervous System Demyelinating Diseases*/Hereditary Central Nervous System Demyelinating Diseases*/Hereditary Central Nervous System Demyelinating Diseases*/diagnostic imaging

  • Source: Journal of human genetics [J Hum Genet] 2022 Mar; Vol. 67 (3), pp. 127-132. Date of Electronic Publication: 2021 Sep 10.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.

  • Authors : Pi S; Neurology Department, Xiangya Hospital, Central South University, Changsha, China.; Gong J

Subjects: Mutation*; Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*genetics ; Congenital Disorders of Glycosylation/Congenital Disorders of Glycosylation/Congenital Disorders of Glycosylation/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2022 Feb; Vol. 67 (2), pp. 103-106. Date of Electronic Publication: 2021 Aug 31.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A novel de novo NIPA1 missense mutation associated to hereditary spastic paraplegia.

  • Authors : Fabbro D; Istituto di Genetica Medica, Azienda Sanitaria Universitaria Friuli Centrale, Udine, Italy.; Mio C

Subjects: Genetic Association Studies*/Genetic Association Studies*/Genetic Association Studies*/methods ; Genetic Predisposition to Disease* ; Mutation, Missense*

  • Source: Journal of human genetics [J Hum Genet] 2021 Dec; Vol. 66 (12), pp. 1177-1180. Date of Electronic Publication: 2021 Jun 09.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.

  • Authors : Tonduti D; Child Neurology Unit,V. Buzzi Children's Hospital, Milano, Italy. .; COALA (Center for diagnosis and treatment of leukodystrophies), V. Buzzi Children's Hospital, Milano, Italy. .

Subjects: Genetic Predisposition to Disease*; Membrane Proteins/Membrane Proteins/Membrane Proteins/*genetics ; Myelin Proteolipid Protein/Myelin Proteolipid Protein/Myelin Proteolipid Protein/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2021 Oct; Vol. 66 (10), pp. 1035-1037. Date of Electronic Publication: 2021 Mar 30.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

  • Authors : Hammarsjö A; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, and Department of Clinical Genetics, Karolinska University Laboratory, Karolinska University Hospital, Stockholm, Sweden. .; Pettersson M

Subjects: Genetic Predisposition to Disease*; Bone Diseases, Developmental/Bone Diseases, Developmental/Bone Diseases, Developmental/*genetics ; Ciliopathies/Ciliopathies/Ciliopathies/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2021 Oct; Vol. 66 (10), pp. 995-1008. Date of Electronic Publication: 2021 Apr 20.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic analysis of 20 patients with hypomyelinating leukodystrophy by trio-based whole-exome sequencing.

  • Authors : Yan H; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Molecular & Behavioral Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.

Subjects: Genetic Predisposition to Disease* ; Genetic Variation*; Hereditary Central Nervous System Demyelinating Diseases/Hereditary Central Nervous System Demyelinating Diseases/Hereditary Central Nervous System Demyelinating Diseases/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2021 Aug; Vol. 66 (8), pp. 761-768. Date of Electronic Publication: 2021 Feb 18.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia.

  • Authors : Willkomm L; Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.

Subjects: Genes, Recessive* ; Homozygote* ; Mutation*

  • Source: Journal of human genetics [J Hum Genet] 2016 Jun; Vol. 61 (6), pp. 571-3. Date of Electronic Publication: 2016 Feb 18.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  153 results for ""MEMBRANE proteins""