Oliver Puk

Paul Ehrlich Str. 23
Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 29 publications

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).

Journal: Human mutation

Published: July 14, 2023

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.

Journal: European journal of human genetics : EJHG

Published: February 10, 2022

Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation.

Serum N-glycomics of a novel CDG-IIb patient reveals aberrant IgG glycosylation.

Journal: Glycobiology

Published: September 09, 2021

A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.

A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns.

Journal: American journal of medical genetics. Part A

Published: January 02, 2021

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.

Journal: American journal of medical genetics. Part A

Published: August 28, 2020

Identification of a New Genetic Mutation Associated With Peters Anomaly.

Identification of a New Genetic Mutation Associated With Peters Anomaly.

Journal: Cornea

Published: April 17, 2020

Imbalances in the eye lens proteome are linked to cataract formation.

Imbalances in the eye lens proteome are linked to cataract formation.

Journal: Nature structural & molecular biology

Published: March 22, 2020

Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice.

Mutation in Bmpr1b Leads to Optic Disc Coloboma and Ventral Retinal Gliosis in Mice.

Journal: Investigative ophthalmology & visual science

Published: February 28, 2020

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis.

Journal: Brain : a journal of neurology

Published: July 05, 2019

Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

Novel MECP2 Mutation c.1162_1172del; p.Pro388* in Two Patients with Symptoms of Atypical Rett Syndrome.

Journal: Molecular syndromology

Published: May 21, 2019

A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.

A mouse model for intellectual disability caused by mutations in the X-linked 2'‑O‑methyltransferase Ftsj1 gene.

Journal: Biochimica et biophysica acta. Molecular basis of disease

Published: July 06, 2018

Fgf9 Y162C Mutation Alters Information Processing and Social Memory in Mice.

Fgf9 Y162C Mutation Alters Information Processing and Social Memory in Mice.

Journal: Molecular neurobiology

Published: January 16, 2017

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Last Updated: 09/26/2026