Disease: Bone dysplasia corpus callosum agenesis
- <em>MED12</em>-Related (Neuro)Developmental Disorders: A Question of Causality
- <em>NFIX</em> gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review
- A de-novo NFIX mutation causes a case of neonatal lethal Marshall-Smith syndrome
- Congenital cataract and congenital glaucoma in Marshall-Smith syndrome
- Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes
- Fronto-orbital advancement in a patient with Marshall-Smith syndrome: a case report and review of the literature
- Growth hormone deficiency in a case of septo-optic-dysplasia due to <em>SOX2</em> mutation: should we re-test patients during the transition period?
- Growth hormone deficiency in a case of septo-optic-dysplasia due to SOX2 mutation: should we re-test patients during the transition period?
- Home-Based Monitoring of Eating in Adolescents: A Pilot Study
- Human diprosopus: Case report of a rare congenital abnormality
- Imaging Similarities Between Oral-Facial-Digital Syndrome Type 1 and Aicardi Syndrome: Prenatal and Postnatal Magnetic Resonance Imaging (MRI) Findings in 4 Patients
- Incidental diagnosis of septo-optic dysplasia in an adult: a case report
- Management of an older Marshall-Smith syndrome patient: a review of literature of MSS and craniosynostosis
- MED12-Related (Neuro)Developmental Disorders: A Question of Causality
- Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome
- Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2-associated syndrome and a brief review of literature
- Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon-level Array, and RNA sequencing
- Pituitary stalk interruption syndrome is characterized by genetic heterogeneity
- Sinus pericranii associated with syntelencephaly: a case report
- The Role of Sonic Hedgehog in Human Holoprosencephaly and Short-Rib Polydactyly Syndromes
- Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly
- Varied presentation of lobar holoprosencephaly as a cause of macrocephaly in a neonate