[2 cases of thiophenicol induced thrombopenia]

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Genome medicine·2024

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Clinical genetics·2017

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Clinical genetics·2015

A simple geometric validation approach to assess the basic behaviour of space- and time- distributed models of epidemic spread - an example using the Ontario rabies model.

Transboundary and emerging diseases·2013

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.

American journal of medical genetics. Part A·2012

Differential response induced by exposure to low-dose ionizing radiation in SHSY-5Y and normal human fibroblast cells.

Applied biochemistry and biotechnology·2006

Inflammatory pseudotumor of lymph nodes.

Annales de medecine interne·2004

[Necrolytic migratory erythema revealing glucagonoma without diabetes].

Annales de medecine interne·2004

[Bilateral primary non-Hodgkin's lymphomas of the adrenals].

Annales de medecine interne·2004

[Acute "pseudo-angiocholitis" due to colonic adenocarcinoma in a man with primary sclerosis cholangitis and ulcerative colitis].

Annales de medecine interne·2004

[Slipped capital femoral epiphysis associated with hyperparathyroidism. A case report].

Annales de medecine interne·2004

[Chronic fever revealing an urachal cyst].

Annales de medecine interne·2004

A Crunch That Spoke: An Atypical Presentation of Spontaneous Pneumomediastinum in an Elderly Male.

Cureus·2026

An Uncommon Presentation of Hypertensive Emergency in a Young Patient: A Case Report.

Cureus·2026

Pitcher's disease: A case of brain fog, arm weakness, numbness, and tingling.

Journal of vascular surgery cases and innovative techniques·2026

The Hidden Crisis: A Rare Case of Thyrotoxicosis in a Young Female, Mimicking Neuromuscular Disease.

Journal of community hospital internal medicine perspectives·2026

Correction to "Characteristics of Wellens' Syndrome in the Current PCI Era: A Single-Center Retrospective Study".

Emergency medicine international·2026

Beyond Apical Ballooning: A Rare Focal Takotsubo Syndrome Variant Following Interscalene Block-Associated Airway Obstruction.

Cureus·2026

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[2 cases of thiophenicol induced thrombopenia]

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Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

A simple geometric validation approach to assess the basic behaviour of space- and time- distributed models of epidemic spread - an example using the Ontario rabies model.

R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations.

Differential response induced by exposure to low-dose ionizing radiation in SHSY-5Y and normal human fibroblast cells.

Inflammatory pseudotumor of lymph nodes.

[Necrolytic migratory erythema revealing glucagonoma without diabetes].

[Bilateral primary non-Hodgkin's lymphomas of the adrenals].

[Acute "pseudo-angiocholitis" due to colonic adenocarcinoma in a man with primary sclerosis cholangitis and ulcerative colitis].

[Slipped capital femoral epiphysis associated with hyperparathyroidism. A case report].

[Chronic fever revealing an urachal cyst].

A Crunch That Spoke: An Atypical Presentation of Spontaneous Pneumomediastinum in an Elderly Male.

An Uncommon Presentation of Hypertensive Emergency in a Young Patient: A Case Report.

Pitcher's disease: A case of brain fog, arm weakness, numbness, and tingling.

The Hidden Crisis: A Rare Case of Thyrotoxicosis in a Young Female, Mimicking Neuromuscular Disease.

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[2 cases of thiophenicol induced thrombopenia]

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