Sage Journals: Discover world-class research

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Research article

First published 2023-12

Scalp Tumor and Hydroureteronephrosis in Patients with Nephronophthisis and Homozygous NPHP1 Deletion

Huajuan Tong, Feng Zhao, Yonghui Yang [...]

Clinical Pediatrics

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Research article

First published 2013-7

A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

G. Eda Utine, Göknur Haliloğlu, Bilge Salancı [...]

Journal of Child Neurology

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Research article

First published 1986-10

Glycosylation in Livers of Newborn Mice Homozygous for a Lethal Deletion

Phyllis A. Shaw, Anthony M. Adamany

Experimental Biology and Medicine

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Research article

First published 2015-04

PTPRD is Homozygously Deleted and Epigenetically Downregulated in Human Hepatocellular Carcinomas

Tolga Acun, Kubilay Demir, Emin Oztas [...]

OMICS: A Journal of Integrative Biology

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Research article

First published 2013-4

Homozygous Survival Motor Neuron 2 Gene Deletion and Sporadic Lower Motor Neuron Disease in Children

Lu Liping, Ma Hongwei, Wang Lin

Journal of Child Neurology

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Research article

First published 1986-2

Selective Expression of Hepatocellular Membrane Proteins in Mice Homozygous for a Lethal Chromosomal Deletion

Allan W. Wolkoff, Richard J. Stockert

Experimental Biology and Medicine

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Research article

First published 1990-12

Decreased Hnf-1 Gene Expression in Mice Homozygous for a 1.2-CentiMorgan Deletion on Chromosome 7

Frank J. Gonzalez, Su-Yan Liu, Christine A. Kozak [...]

DNA and Cell Biology

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Research article

First published 2009-08

False Homozygous Deletions of SMN1 Exon 7 Using Dra I PCR-RFLP Caused by a Novel Mutation in Spinal Muscular Atrophy

Seong-Ho Kang, Sung Im Cho, Jong-Hee Chae [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2018-12

Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios,Megalencephaly,and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment

Katherine Nelson, Christopher Jackman, Jennifer Bell [...]

Journal of Child Neurology

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Research article

First published 2023-3

Molecular characterization of a novel homozygous deletion in β-globin cluster causing (δβ) 0 -Thalassemia among Tunisian family

Miniar Kalai, Imen Moumni, Houyem Ouragini [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

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