Sonal Mahajan

3PUBLICATIONS
14CO-AUTHORS
Medical genetics (excl. cancer genetics)Molecular medicineDevelopmental genetics (incl. sex determination)
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Publications (3)

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|Apr 27, 2026
Patient iPSC-Derived Cartilage Organoids Reveal Defective ECM Deposition and Altered Chondrogenic Trajectory in Saul-Wilson Syndrome.

|Aug 04, 2023
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.

Francisco Del Caño-Ochoa, Bobby G Ng, Antonio Rubio-Del-Campo

|Nov 10, 2022
Homozygous truncating variant in <i>MAN2A2</i> causes a novel congenital disorder of glycosylation with neurological involvement.

Sonal Mahajan, Bobby George Ng, Lama AlAbdi

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Frequent Collaborators

2 joint publications

Bobby George Ng

1 joint publications

Fowzan S Alkuraya

1 joint publications

Francisco Del Caño-Ochoa

1 joint publications

Antonio Rubio-Del-Campo

1 joint publications

Matthew P Wilson

1 joint publications

Marçal Vilar

1 joint publications

Daisy Rymen

1 joint publications

Paula Sánchez-Pintos

1 joint publications

Joanna Kenny

1 joint publications

Myriam Ley Martos

Frequent Collaborators

2 joint publications

Bobby George Ng

1 joint publications

Fowzan S Alkuraya

1 joint publications

Francisco Del Caño-Ochoa

1 joint publications

Antonio Rubio-Del-Campo

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