Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III

Genetic bases of craniosynostoses: An update.

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IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Clinical genetics·2018

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

Clinical genetics·2018

Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

Clinical genetics·2017

Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.

Clinical genetics·2015

Who gets dipyrone (metamizole) in Germany? Prescribing by age, sex and region.

Journal of clinical pharmacy and therapeutics·2015

Defects of blastogenesis.

American journal of medical genetics·2002

Malformations of the craniofacial region: evolutionary, embryonic, genetic, and clinical perspectives.

American journal of medical genetics·2002

Limb anomalies: Developmental and evolutionary aspects.

American journal of medical genetics·2002

Molecular etiology of gut malformations and diseases.

American journal of medical genetics·2002

Ectodermal dysplasia with acanthosis nigricans (Lelis syndrome).

American journal of medical genetics·2002

Three cases of tetrasomy 9p.

American journal of medical genetics·2002

Raman spectroscopy and high pressure study of hydrothermally synthesized NaGaGe2O6 compound with pyroxene structure.

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy·2026

Trochlear Nerve Palsy Caused by a Quadrigeminal Cistern Arachnoid Cyst Successfully Treated with a Hybrid Exoscope-endoscope Keyhole Approach: A Case Report.

NMC case report journal·2026

Intrinsic Near-Infrared Photothermal Effect Induces Single-Crystal-to-Single-Crystal Transformation in Organic Molecular Crystals.

Angewandte Chemie (International ed. in English)·2026

Beyond Primary Epilepsy: Fahr's Syndrome Secondary to Congenital Parathyroid Agenesis Presenting With Generalised Seizures in a Young Adult.

Cureus·2026

Symptomatic intrahepatic subcapsular hematoma-derived liver cyst following laparoscopic cholecystectomy: a case report.

AME case reports·2026

Spontaneous fistulization of a giant pancreatic pseudocyst into the duodenum following acute pancreatitis: a case report.

Annals of medicine and surgery (2012)·2026

Related Experiment Videos

Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III

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Genetic bases of craniosynostoses: An update.

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases.

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Raman spectroscopy and high pressure study of hydrothermally synthesized NaGaGe2O6 compound with pyroxene structure.

Trochlear Nerve Palsy Caused by a Quadrigeminal Cistern Arachnoid Cyst Successfully Treated with a Hybrid Exoscope-endoscope Keyhole Approach: A Case Report.

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Microcephalic osteodysplastic primordial dwarfism: further evidence for identity of the so-called types I and III

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