Ellis-van Creveld syndrome and the Amish

The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century.

JAMA·2001

The sequence of the human genome.

Science (New York, N.Y.)·2001

Implications of the Human Genome Project for medical science.

JAMA·2001

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

Clinical genetics·2000

Online Mendelian Inheritance in Man (OMIM).

Human mutation·1999

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.

Prenatal diagnosis·1999

Toward the clinical application of long-read sequencing in repeat-expansion disorders.

Nature genetics·2026

Distinguishing different psychiatric disorders using DDx-PRS.

Nature genetics·2026

Adaptive evolution of polyploid crops.

Nature genetics·2026

Rare variant effect estimation and polygenic risk prediction.

Nature genetics·2026

Spatial analysis of head and neck cancer identifies two ecosystems with distinct modes of epithelial-to-mesenchymal transition.

Nature genetics·2026

PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease hallmarks in neuronal cultures.

Nature genetics·2026

Preoperative Speech Impairments as Precursors of Posterior Fossa Syndrome in Children with Brain Tumours.

Cerebellum (London, England)·2026

Accessory posterior cerebral artery-posterior cerebral artery anastomosis located just distal to the P1-P2 junction incidentally diagnosed by magnetic resonance angiography.

Surgical and radiologic anatomy : SRA·2026

Histological and immunohistochemical characterization of salivary pleomorphic adenomas in aged rhesus macaques (Macaca mulatta).

Veterinary pathology·2026

The lived complexity of phantom limb telescoping: insights from a qualitative study.

Frontiers in rehabilitation sciences·2026

Morphology and Morphometric Analysis of the Psoas Minor Muscle in Adult Human Cadavers at a Tertiary-Care Institution in Western India.

Cureus·2026

SOX2 Can Support a Diagnosis of PiMHEC With Rare to Absent Ghost Cells and Can Distinguish PiMHEC From Its Most Problematic Mimickers.

International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists·2026

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Ellis-van Creveld syndrome and the Amish

Related Concept Videos

The anatomy of the human genome: a neo-Vesalian basis for medicine in the 21st century.

The sequence of the human genome.

Implications of the Human Genome Project for medical science.

Overlap of PIV syndrome, VACTERL and Pallister-Hall syndrome: clinical and molecular analysis.

Online Mendelian Inheritance in Man (OMIM).

Cloning of multiple keratin 16 genes facilitates prenatal diagnosis of pachyonychia congenita type 1.

Toward the clinical application of long-read sequencing in repeat-expansion disorders.

Distinguishing different psychiatric disorders using DDx-PRS.

Adaptive evolution of polyploid crops.

Rare variant effect estimation and polygenic risk prediction.

Spatial analysis of head and neck cancer identifies two ecosystems with distinct modes of epithelial-to-mesenchymal transition.

PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease hallmarks in neuronal cultures.

Preoperative Speech Impairments as Precursors of Posterior Fossa Syndrome in Children with Brain Tumours.

Accessory posterior cerebral artery-posterior cerebral artery anastomosis located just distal to the P1-P2 junction incidentally diagnosed by magnetic resonance angiography.

Histological and immunohistochemical characterization of salivary pleomorphic adenomas in aged rhesus macaques (Macaca mulatta).

The lived complexity of phantom limb telescoping: insights from a qualitative study.

Morphology and Morphometric Analysis of the Psoas Minor Muscle in Adult Human Cadavers at a Tertiary-Care Institution in Western India.

SOX2 Can Support a Diagnosis of PiMHEC With Rare to Absent Ghost Cells and Can Distinguish PiMHEC From Its Most Problematic Mimickers.

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Ellis-van Creveld syndrome and the Amish

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