Eronen syndrome identical with DOOR syndrome?

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

European journal of medical genetics·2006

Kohlschutter syndrome in siblings.

Clinical dysmorphology·2005

Diagnosis in dysmorphology: clues from the skin.

The British journal of dermatology·2004

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

American journal of medical genetics. Part A·2004

Familial syndromic duodenal atresia: Feingold syndrome.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie·2004

Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.

Neuropediatrics·2003

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Clinical genetics·2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

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

Insights into ovary micromorphology and oogenesis in Drawida pellucida earthworm (Moniligastridae).

Micron (Oxford, England : 1993)·2026

Small bowel obstruction due to herniation through the foramen of Winslow in an elderly patient: a case report.

Journal of surgical case reports·2026

Richter's hernia through a missed traumatic abdominal wall defect: A rare cause of early postoperative obstruction after trauma laparotomy.

Tropical doctor·2026

Case Report: Spinal epidural lipomatosis with incomplete cauda equina syndrome treated with unilateral biportal endoscopic technique.

Frontiers in surgery·2026

Radiological insights into a voluminous left-sided Morgagni-Larrey hernia: A case report.

Radiology case reports·2026

Post-Traumatic Subcutaneous Emphysema of the Upper Extremity Associated with an Open Scapular Fracture: A Case Report and Review of Literature.

Journal of orthopaedic case reports·2026

Related Experiment Videos

Eronen syndrome identical with DOOR syndrome?

Related Concept Videos

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.

Kohlschutter syndrome in siblings.

Diagnosis in dysmorphology: clues from the skin.

Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

Familial syndromic duodenal atresia: Feingold syndrome.

Characterization of brain malformations in the Baraitser-Winter syndrome and review of the literature.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

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.

Insights into ovary micromorphology and oogenesis in Drawida pellucida earthworm (Moniligastridae).

Small bowel obstruction due to herniation through the foramen of Winslow in an elderly patient: a case report.

Richter's hernia through a missed traumatic abdominal wall defect: A rare cause of early postoperative obstruction after trauma laparotomy.

Case Report: Spinal epidural lipomatosis with incomplete cauda equina syndrome treated with unilateral biportal endoscopic technique.

Radiological insights into a voluminous left-sided Morgagni-Larrey hernia: A case report.

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Eronen syndrome identical with DOOR syndrome?

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