Robertsonian translocations in Prader-Willi syndrome

Bone marrow stromal cells regulate caspase 3 activity in leukemic cells during chemotherapy.

Leukemia research·2001

Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome.

Clinical genetics·2000

Ring chromosome 1 in a newborn.

Clinical dysmorphology·2000

Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s.

American journal of medical genetics·2000

Detection of pericentric inversion of X chromosome in a male fetus.

American journal of medical genetics·1999

Myeloperoxidase-catalyzed redox-cycling of phenol promotes lipid peroxidation and thiol oxidation in HL-60 cells.

Free radical biology & medicine·1999

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical genetics·2026

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Clinical genetics·2026

Spinal Muscular Atrophy in Adult Neurology Services in India.

Clinical genetics·2026

The evolutionary path to wide angles: Domain V is required for LAZY1 function, but its loss alone does not confer TAC1-like activity in poplar.

Plant cell reports·2026

Comparative plastome analyses and phylogenetic insights of Stellaria (Caryophyllaceae).

Frontiers in plant science·2026

Integrated clinical-genetic-pathological analysis expands the phenotypic and molecular spectrum of PPNAD across carney complex and isolated forms.

European journal of endocrinology·2026

Identification and Characterization of a Novel Luteovirus Infecting Hosta ventricosa Plants.

Viruses·2026

Phylogenomics and morphological evidence reveal a new genus Callibractia gen. Nov. (Apiaceae, Apioideae), a distinct alpine lineage of Sino-Himalaya shaped by uplift of the Pan-Tibetan Highlands.

Molecular phylogenetics and evolution·2026

Identification of the plant mitochondrial OrfX protein: A mass spectrometry approach.

FEBS letters·2026

Related Experiment Videos

Robertsonian translocations in Prader-Willi syndrome

Related Concept Videos

Bone marrow stromal cells regulate caspase 3 activity in leukemic cells during chemotherapy.

Analysis of genomic instability using multiple assays in a patient with Rothmund-Thomson syndrome.

Ring chromosome 1 in a newborn.

Newborn infant with inherited ring and de novo interstitial deletion on homologous chromosome 22s.

Detection of pericentric inversion of X chromosome in a male fetus.

Myeloperoxidase-catalyzed redox-cycling of phenol promotes lipid peroxidation and thiol oxidation in HL-60 cells.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Spinal Muscular Atrophy in Adult Neurology Services in India.

The evolutionary path to wide angles: Domain V is required for LAZY1 function, but its loss alone does not confer TAC1-like activity in poplar.

Comparative plastome analyses and phylogenetic insights of Stellaria (Caryophyllaceae).

Integrated clinical-genetic-pathological analysis expands the phenotypic and molecular spectrum of PPNAD across carney complex and isolated forms.

Identification and Characterization of a Novel Luteovirus Infecting Hosta ventricosa Plants.

Phylogenomics and morphological evidence reveal a new genus Callibractia gen. Nov. (Apiaceae, Apioideae), a distinct alpine lineage of Sino-Himalaya shaped by uplift of the Pan-Tibetan Highlands.

Identification of the plant mitochondrial OrfX protein: A mass spectrometry approach.

Related Experiment Videos

Robertsonian translocations in Prader-Willi syndrome

Related Concept Videos

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