cytochip oligo isca (4080-5) 8x60k array (BlueGnome Limited)
90
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BlueGnome Limited
cytochip oligo isca (4080-5) 8x60k array
Cytochip Oligo Isca (4080 5) 8x60k Array, supplied by BlueGnome Limited, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/isca+array/cytochip+oligo+array/med_rxiv__2025__06__05__25327661-37-9-11
Average 90 stars, based on 1 article reviews
Cytochip Oligo Isca (4080 5) 8x60k Array, supplied by BlueGnome Limited, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/isca+array/cytochip+oligo+array/med_rxiv__2025__06__05__25327661-37-9-11
Average 90 stars, based on 1 article reviews
cytochip oligo isca (4080-5) 8x60k array - by Bioz Stars,
2026-10
90/100 stars
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DNA Extraction:Article Title: Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report. Article Snippet: Correspondence Thiago Rodrigues Cavole, Medical Geneticist at Medical Genetics Department, Universidade Federal de S~ao Paulo, Rua Botucatu, 394, S~ao Paulo, Brazil.. Email: thiago.cavole@gmail.com Abstract Kenny-Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving hypoparathyroidism.. The autosomal dominant form (KCS2), caused by heterozygous pathogenic variants in the FAM111A gene, is distinguished from the autosomal recessive form (KCS1) and Sanjad-Sakati syndrome (SSS), both caused by pathogenic variants in the tubulin folding cofactor E (TBCE) gene, by the absence of microcephaly and intellectual disability. Labeling:Article Title: Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report. Article Snippet: Correspondence Thiago Rodrigues Cavole, Medical Geneticist at Medical Genetics Department, Universidade Federal de S~ao Paulo, Rua Botucatu, 394, S~ao Paulo, Brazil.. Email: thiago.cavole@gmail.com Abstract Kenny-Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving hypoparathyroidism.. The autosomal dominant form (KCS2), caused by heterozygous pathogenic variants in the FAM111A gene, is distinguished from the autosomal recessive form (KCS1) and Sanjad-Sakati syndrome (SSS), both caused by pathogenic variants in the tubulin folding cofactor E (TBCE) gene, by the absence of microcephaly and intellectual disability. Hybridization:Article Title: Overlapping phenotype comprising Kenny-Caffey type 2 and Sanjad-Sakati syndromes: The first case report. Article Snippet: Correspondence Thiago Rodrigues Cavole, Medical Geneticist at Medical Genetics Department, Universidade Federal de S~ao Paulo, Rua Botucatu, 394, S~ao Paulo, Brazil.. Email: thiago.cavole@gmail.com Abstract Kenny-Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving hypoparathyroidism.. The autosomal dominant form (KCS2), caused by heterozygous pathogenic variants in the FAM111A gene, is distinguished from the autosomal recessive form (KCS1) and Sanjad-Sakati syndrome (SSS), both caused by pathogenic variants in the tubulin folding cofactor E (TBCE) gene, by the absence of microcephaly and intellectual disability. Article Title: Genetic Testing for Malformations of Cortical Development Article Snippet: .. Patients who showed signs of facial dysmorphism and those with MCD associated with chromosomal aberrations and CNV also underwent array comparative genomic hybridization (aCGH). aCGH was performed using the commercially available oligonucleotide microarray platforms ISCA 4 × 180 K, 8 × 60 K (SurePrint CGH 4 × 180 K G3 ISCA; Agilent Technologies; SurePrint CGH 8 × 60 K G3 ISCA; Agilent Technologies; other:Article Title: Xq21.1q21.31 Duplication in Two Male Siblings Article Snippet: Array CGH analysis of the proband and his brother was performed using the Article Title: Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy. Article Snippet: Please cite this article as: Schaida Schirwani , Anna Sarkozy , Rahul Phadke , Anne-Marie Childs , Rachael Mein , Azzam Ismail , Audrey Smith , Francesco Muntoni , Hobson Emma , Karen Pysden , Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy, Neuromuscular Disorders (2020), doi: https://doi.org/10.1016/j.nmd.2020.09.033 Article Title: Multiplex Proteomic Evaluation in Inborn Errors with Deregulated IgE Response. Article Snippet: Genomic Hybridization Microarray (Array–CGH) Analysis Based on the presence of multiple congenital anomalies and dysmorphisms, a comparative genomic hybridization microarray (Array–CGH) analysis using the Article Title: Multiplex Proteomic Evaluation in Inborn Errors with Deregulated IgE Response Article Snippet: Based on the presence of multiple congenital anomalies and dysmorphisms, a comparative genomic hybridization microarray (Array–CGH) analysis using the Microarray:Article Title: Genetic Testing for Malformations of Cortical Development Article Snippet: .. Patients who showed signs of facial dysmorphism and those with MCD associated with chromosomal aberrations and CNV also underwent array comparative genomic hybridization (aCGH). aCGH was performed using the commercially available oligonucleotide microarray platforms ISCA 4 × 180 K, 8 × 60 K (SurePrint CGH 4 × 180 K G3 ISCA; Agilent Technologies; SurePrint CGH 8 × 60 K G3 ISCA; Agilent Technologies; |