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Open access

Research article

First published 2024-4

Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review

Xinmiao Fan, Tengyu Yang, Xiaoping Lu [...]

Science Progress

Retricted access

Research article

First published 2015-10

Two Siblings With a CDKL5 Mutation

Eveline E. O. Hagebeuk, Carlo L. Marcelis, Mariëlle Alders [...]

Journal of Child Neurology

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Research article

First published 2023-12

Germline Mosaicism in STAT3 : A Pitfall for Genetic Diagnosis,Counseling,and Therapy of Hyper-IgE Syndrome

Quentin Sabbagh, Jean-David Cohen, Jérémie Mortreux [...]

Dermatitis®

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Research article

First published 2025-10

Efficient CRISPR-Cas9-Mediated Genome Editing of the Cane Toad ( Rhinella marina )

Michael B. Clark, Alexander T. Funk, Alex Paporakis [...]

The CRISPR Journal

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Research article

First published 2024-07

A Novel Missense Variant in the NKX2-1 Homeodomain Prevents Transcriptional Rescue by TAZ

Beatriz Villafuerte, Carlos Carrasco-López, Amanda Herranz [...]

Thyroid®

Open access

Research article

First published 2024-2

De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?

Clorinda Brignola, Sara Volorio, Giovanna De Vecchi [...]

Tumori Journal

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Other

First published 1998-12

Tuberous Sclerosis Complex Consensus Conference: Revised Clinical Diagnostic Criteria

E.S. Roach, Manuel R. Gomez, Hope Northrup

Journal of Child Neurology

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Research article

First published 2003-03

The Role of Somatic and Germline Mutations in Aging and a Mutation Interaction Model of Aging

R. C. Woodruff, J. N. Thompson

Rejuvenation Research

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Research article

First published 2026

FLCN -Mutated Tumors in Smith-Magenis Syndrome: A Case Report of FLCN -Associated Pathogenesis

Émilie Pichette, Ali Shahini, Senthilkumar Kailasam [...]

International Journal of Surgical Pathology

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Research article

First published 2017-12

Transgenerational Inheritance of Familial Lipomyelomeningocele

Thomas Larrew, Ramin Eskandari, Kenton R. Holden [...]

Journal of Child Neurology

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