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Showing posts from January, 2026

A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs - Hytönen - 2023 - Animal Genetics

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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

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Everything You Need To Know About Genetic Mutations

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A frameshift deletion in F8 associated with hemophilia A in Labrador Retriever dogs - Hytönen - 2023 - Animal Genetics

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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

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Causes/Inheritance - Duchenne Muscular Dystrophy (DMD) - Diseases

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Inside the X-(Chromosome) Files

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Everything You Need To Know About Genetic Mutations

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Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency

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Gene modification therapies for hereditary diseases in the fetus - Mattar - 2023 - Prenatal Diagnosis

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Hemophilia Overview: Types, Causes, Symptoms, and Treatment

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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

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Incidental Finding of Combined Factor V and VIII Deficiency in the Setting of a Preoperative Evaluation: A Case Report

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Gene modification therapies for hereditary diseases in the fetus - Mattar - 2023 - Prenatal Diagnosis

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Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency

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Hemophilia Overview: Types, Causes, Symptoms, and Treatment

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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

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Incidental Finding of Combined Factor V and VIII Deficiency in the Setting of a Preoperative Evaluation: A Case Report

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Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency

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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

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Gene modification therapies for hereditary diseases in the fetus - Mattar - 2023 - Prenatal Diagnosis

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Hemophilia Overview: Types, Causes, Symptoms, and Treatment

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Incidental Finding of Combined Factor V and VIII Deficiency in the Setting of a Preoperative Evaluation: A Case Report

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Hemophilia Overview: Types, Causes, Symptoms, and Treatment

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Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency

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Gene modification therapies for hereditary diseases in the fetus - Mattar - 2023 - Prenatal Diagnosis

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An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation

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Incidental Finding of Combined Factor V and VIII Deficiency in the Setting of a Preoperative Evaluation: A Case Report

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Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication

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Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice

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Advanced maternal age: copy number variations and pregnancy outcomes

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The Genetic and Clinical Outcomes in Fetuses With Isolated Fetal Growth Restriction: A Chinese Single-Center Retrospective Study

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A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications

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Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice

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Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication

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Advanced maternal age: copy number variations and pregnancy outcomes

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The Genetic and Clinical Outcomes in Fetuses With Isolated Fetal Growth Restriction: A Chinese Single-Center Retrospective Study

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A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications

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Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication

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Advanced maternal age: copy number variations and pregnancy outcomes

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The Genetic and Clinical Outcomes in Fetuses With Isolated Fetal Growth Restriction: A Chinese Single-Center Retrospective Study

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Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice

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A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications

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Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice

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The Genetic and Clinical Outcomes in Fetuses With Isolated Fetal Growth Restriction: A Chinese Single-Center Retrospective Study

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Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication

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Advanced maternal age: copy number variations and pregnancy outcomes

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A retrospective study for the diagnostic value of chromosomal microarray analysis in fetuses with high-risk prenatal indications

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Genomic insights into prenatal diagnosis of congenital heart defects: value of CNV-seq and WES in clinical practice

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Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication

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