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Search results (461)

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bsence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation.

Saad R. et al, (2026), Am J Med Genet A, 200, 215 - 222

Not Apert Syndrome: A Critique of a Recent Case Report by Pan and Yang.

Wilkie AOM., (2026), Am J Med Genet A, 200, 266 - 269

Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.

Pei Y. et al, (2025), Genome Med, 17

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome.

Leong WY. et al, (2025), PLoS Genet, 21

BCL11B-related disease: a single phenotypic entity?

Vedovato-Dos-Santos JH. et al, (2025), Eur J Hum Genet, 33, 451 - 460

RAB23 loss-of-function mutation causes context-dependent ciliopathy in Carpenter syndrome

Leong WY. et al, (2025)

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.

Hashimoto AS. et al, (2025), Genet Med Open, 3

Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.

Ansari M. et al, (2025), Hum Mutat, 2025

Retinoic Acid Regulates the Commitment of Osteoprogenitor Cells by Controlling the Transcription of DHRS3

Varshosaz P. et al, (2025), BIRTH DEFECTS RESEARCH, 117, S46 - S46

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.

Walton IS. et al, (2024), J Anat, 245, 874 - 878

Introduction: Professor Gillian Morriss-Kay DSc.

Iseki S. and Wilkie AOM., (2024), J Anat, 245

Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus.

Maroofian R. et al, (2024), HGG Adv, 5

SMAD4 mutations causing Myhre syndrome are under positive selection in the male germline.

Wood KA. et al, (2024), Am J Hum Genet, 111, 1953 - 1969

Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark.

Pei Y. et al, (2024), Genes (Basel), 15

The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patients.

Watts LM. et al, (2024), Eur J Hum Genet, 32, 864 - 870

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