Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with r(Y)

Health-Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader-Willi Syndrome in Japan.

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Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.

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A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus.

Molecular syndromology·2025

Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome.

Clinical genetics·2025

Age-related changes in thyroid hormone profile in pediatric patients with Down syndrome.

Endocrine journal·2025

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

European journal of human genetics : EJHG·2025

Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.

American journal of medical genetics. Part A·2026

Lethal Congenital Contracture Syndrome Type 3 in an Isolated Canadian Population.

American journal of medical genetics. Part A·2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

American journal of medical genetics. Part A·2026

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers.

American journal of medical genetics. Part A·2026

Compound Heterozygous Variants in the PAICS Gene Integrate the Previously Described Divergent Phenotypes.

American journal of medical genetics. Part A·2026

Prenatal Diagnosis of a Splice-Site Variant in UBA2: Expanding the Clinical Spectrum of UBA2-Related Disease.

American journal of medical genetics. Part A·2026

Failures to maintain CpG-methylation of CoRSIVs in bovine sperm are associated with low sire conception.

Reproduction (Cambridge, England)·2026

[DNA Methylation as a Biomarker for Chromatinopathies: Present and Future].

Molekuliarnaia biologiia·2026

Molecular insights into NLRP1 Gly/N-degron recognition by CRL2ZER1.

Acta crystallographica. Section F, Structural biology communications·2026

Effect of Testosterone Treatment on Leucocyte Telomere Length in Men: Results From a Randomised Placebo-Controlled Trial.

Andrology·2026

A HECW2 Missense Variant with a Coexisting 15q25.2-q25.3 Deletion: A Dual Molecular Diagnosis Case Report.

Molecular syndromology·2026

Intragenic methylation repatterning is associated with alternative splicing and unique epigenetic phenotypes.

Environmental epigenetics·2026

Related Experiment Videos

Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with

Related Concept Videos

Health-Related Quality of Life and Its Related Factors in Adolescents and Adults With Prader-Willi Syndrome in Japan.

Aberrant Splicing From an HDAC8 Intronic Variant c.112-15C>A Causes Familial Cornelia de Lange Syndrome in Heterozygous and Hemizygous Individuals.

A TMEM260 Biallelic Deletion Underlies Truncus Arteriosus.

Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome.

Age-related changes in thyroid hormone profile in pediatric patients with Down syndrome.

Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis.

Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.

Lethal Congenital Contracture Syndrome Type 3 in an Isolated Canadian Population.

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers.

Compound Heterozygous Variants in the PAICS Gene Integrate the Previously Described Divergent Phenotypes.

Prenatal Diagnosis of a Splice-Site Variant in UBA2: Expanding the Clinical Spectrum of UBA2-Related Disease.

Failures to maintain CpG-methylation of CoRSIVs in bovine sperm are associated with low sire conception.

[DNA Methylation as a Biomarker for Chromatinopathies: Present and Future].

Molecular insights into NLRP1 Gly/N-degron recognition by CRL2ZER1.

Effect of Testosterone Treatment on Leucocyte Telomere Length in Men: Results From a Randomised Placebo-Controlled Trial.

A HECW2 Missense Variant with a Coexisting 15q25.2-q25.3 Deletion: A Dual Molecular Diagnosis Case Report.

Intragenic methylation repatterning is associated with alternative splicing and unique epigenetic phenotypes.

Related Experiment Videos

Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with...

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Unmasking 15q12 deletion using microarray-based comparative genomic hybridization in a mentally retarded boy with