The biochemical defect in Farber's disease

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clinical genetics·2010

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Journal of inherited metabolic disease·2009

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Clinical genetics·2007

The value of MLPA in Waardenburg syndrome.

Genetic testing·2007

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Prenatal diagnosis·2005

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Clinical genetics·2005

Nucleoskeletal Proteins in Early Embryogenesis.

Advances in experimental medicine and biology·2026

Nuclear Dynamics and Its Timing Regulation Revealed by Live-Cell Imaging.

Advances in experimental medicine and biology·2026

Histone Modifications in Mammalian Early Embryos.

Advances in experimental medicine and biology·2026

Oocyte Kinetochores at the Nexus of Meiotic Drive and Segregation Fidelity.

Advances in experimental medicine and biology·2026

Asymmetric Chromosome Establishment and Segregation During Germline Stem Cell Division.

Advances in experimental medicine and biology·2026

Non-random Sister Chromatid Segregation Mediated by Ribosomal DNA in Drosophila Male Germline Stem Cells.

Advances in experimental medicine and biology·2026

Understanding Uncertainty and Error in Slip Length Measured by Atomic Force Microscopy (AFM).

Langmuir : the ACS journal of surfaces and colloids·2026

Atomic Uncertainty Pinpoints Critical Failure Structures for Trustworthy Molecular Property Prediction.

Journal of chemical information and modeling·2026

Uncertainty from sampling in acceptance sampling.

Analytical methods : advancing methods and applications·2026

High-resolution microtesla in-situ<sup>13</sup>C NMR detection of "scaled-up" SABRE-hyperpolarization of [1-<sup>13</sup>C]pyruvate.

Journal of magnetic resonance (San Diego, Calif. : 1997)·2026

When the Nerve Lies Between the Fragments: A Mid-Shaft Humeral Fracture Mimicking a Holstein-Lewis Injury.

Journal of orthopaedic case reports·2026

Atomic Force Microscopy Based Single Molecule Recognition: Deciphering Biological Interactions at the Nanoscale.

Journal of molecular recognition : JMR·2026

Related Experiment Videos

The biochemical defect in Farber's disease

Related Concept Videos

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Nucleoskeletal Proteins in Early Embryogenesis.

Nuclear Dynamics and Its Timing Regulation Revealed by Live-Cell Imaging.

Histone Modifications in Mammalian Early Embryos.

Oocyte Kinetochores at the Nexus of Meiotic Drive and Segregation Fidelity.

Asymmetric Chromosome Establishment and Segregation During Germline Stem Cell Division.

Non-random Sister Chromatid Segregation Mediated by Ribosomal DNA in Drosophila Male Germline Stem Cells.

Understanding Uncertainty and Error in Slip Length Measured by Atomic Force Microscopy (AFM).

Atomic Uncertainty Pinpoints Critical Failure Structures for Trustworthy Molecular Property Prediction.

Uncertainty from sampling in acceptance sampling.

High-resolution microtesla in-situ<sup>13</sup>C NMR detection of "scaled-up" SABRE-hyperpolarization of [1-<sup>13</sup>C]pyruvate.

When the Nerve Lies Between the Fragments: A Mid-Shaft Humeral Fracture Mimicking a Holstein-Lewis Injury.

Atomic Force Microscopy Based Single Molecule Recognition: Deciphering Biological Interactions at the Nanoscale.

Related Experiment Videos

The biochemical defect in Farber's disease

Related Concept Videos

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