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Quoted phrase not found in phrase index: "Intellectual disability, X-linked 101"
Page 1
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.
J Med Genet. 2013.
PMID: 23644449
BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been published but an overview of phenotype, genotype and phenotype--genotype correlatio …
BACKGROUND: Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its …
Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II.
Agrawal N, Verma G, Saxena D, Kabra M, Gupta N, Mandal K, Moirangthem A, Sheth J, Puri RD, Bijarnia-Mahay S, Kapoor S, Danda S, H SV, Datar CA, Ranganath P, Shukla A, Dalal A, Srivastava P, Devi RR, Phadke SR.
Agrawal N, et al.
Eur J Med Genet. 2022 Mar;65(3):104447. doi: 10.1016/j.ejmg.2022.104447. Epub 2022 Feb 8.
Eur J Med Genet. 2022.
PMID: 35144014
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. ...Positive family history was present in 31% (41/130) of patients. Developmental delay and intellectual disability were the ma …
MPS II is an X linked recessive lysosomal storage disorder with multi-system involvement and marked molecular heterogeneity. . …
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A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases.
Greene D; NIHR BioResource; Richardson S, Turro E.
Greene D, et al.
Am J Hum Genet. 2017 Jul 6;101(1):104-114. doi: 10.1016/j.ajhg.2017.05.015. Epub 2017 Jun 29.
Am J Hum Genet. 2017.
PMID: 28669401
Free PMC article.
Variant-specific prior information derived from allele frequency databases, consequence prediction algorithms, or genomic datasets can be integrated into the inference. ...
Variant-specific prior information derived from allele frequency databases, consequence prediction algorithms, or genomic datasets ca …
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Therapeutic plasma exchange in treatment of adrenoleukodystrophy.
Bambauer R, Schiel R, Cordes H, Latza R.
Bambauer R, et al.
Ther Apher. 2000 Oct;4(5):338-41. doi: 10.1046/j.1526-0968.2000.004005338.x.
Ther Apher. 2000.
PMID: 11111814
Adrenoleukodystrophy (ALD) is an X-linked disorder of metabolism of very long-chain fatty acids (VLCFA) with a frequency of up to 1:20,000 in males. ...
Adrenoleukodystrophy (ALD) is an X-linked disorder of metabolism of very long-chain fatty acids (VLCFA) with a frequency of up …
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