Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene

Natural history in Malan syndrome: survey of 28 adults and literature review.

Orphanet journal of rare diseases·2024

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.

Human genomics·2024

Synergistic use of bioactive agents for the management of different skin conditions: an overview of biological activities.

European review for medical and pharmacological sciences·2023

Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption.

Bone·2021

Consensus statement from the international consensus meeting on post-traumatic cranioplasty.

Acta neurochirurgica·2020

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal of intellectual disability research : JIDR·2020

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

Clinical genetics·2026

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

Clinical genetics·2026

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.

Clinical genetics·2026

Müllerian Duct Aplasia in a Girl With SMARCB1-Related Coffin-Siris Syndrome: A Rare Co-Occurring Anomaly.

Clinical genetics·2026

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Clinical genetics·2026

Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review.

Clinical genetics·2026

Fréchet ChemNet Distance Is Blind to Double-Bond Stereochemistry.

Journal of chemical information and modeling·2026

Retraction: Exosomal CD44 transmits lymph node metastatic capacity between gastric cancer cells via YAP-CPT1A-mediated FAO reprogramming.

Frontiers in oncology·2026

Correction to "Propellane Alkaloid Biosynthesis and Total Synthesis via Interrupted Reaction Pathways".

ACS central science·2026

Erratum: Overexpression of Platelet-Derived Growth Factor Receptor Α D842V Mutants Prevents Liver Regeneration and Chemically Induced Hepatocarcinogenesis via Inhibition of MET and EGFR: Erratum.

Journal of Cancer·2026

[Retracted] miR-185-5p targets ROCK2 and inhibits cell migration and invasion of hepatocellular carcinoma.

Oncology letters·2026

Biosynthesis of (+)-palitantin requires homologs of alkyl salicylaldehyde-forming enzymes without involvement of an aromatic intermediate.

Chemical science·2026

Related Experiment Videos

Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene

Related Concept Videos

Natural history in Malan syndrome: survey of 28 adults and literature review.

Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.

Synergistic use of bioactive agents for the management of different skin conditions: an overview of biological activities.

Scoliosis with cognitive impairment in a girl with 8q11.21q11.23 microdeletion and SNTG1 disruption.

Consensus statement from the international consensus meeting on post-traumatic cranioplasty.

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

A Novel ACAN Missense Variant in the G1 Domain Causes Short Stature, Advanced Bone Age, and Osteochondritis Dissecans: A Case Report and Literature Review.

A De Novo ATP1A3 p.Arg995His Variant in a Patient With an Adult-Onset Primary Lateral Sclerosis-Like Syndrome.

A Homozygous Frameshift Variant in KHDC4 Is Associated With a Syndromic Inherited Retinal Disease in Humans.

Müllerian Duct Aplasia in a Girl With SMARCB1-Related Coffin-Siris Syndrome: A Rare Co-Occurring Anomaly.

Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age-Dependent Clinical Trajectory.

Liquid Biopsy and Multi-Cancer Early Detection Tests for Cancer Screening: A Scoping Review.

Fréchet ChemNet Distance Is Blind to Double-Bond Stereochemistry.

Retraction: Exosomal CD44 transmits lymph node metastatic capacity between gastric cancer cells via YAP-CPT1A-mediated FAO reprogramming.

Correction to "Propellane Alkaloid Biosynthesis and Total Synthesis via Interrupted Reaction Pathways".

Erratum: Overexpression of Platelet-Derived Growth Factor Receptor Α D842V Mutants Prevents Liver Regeneration and Chemically Induced Hepatocarcinogenesis via Inhibition of MET and EGFR: Erratum.

[Retracted] miR-185-5p targets ROCK2 and inhibits cell migration and invasion of hepatocellular carcinoma.

Biosynthesis of (+)-palitantin requires homologs of alkyl salicylaldehyde-forming enzymes without involvement of an aromatic intermediate.

Related Experiment Videos

Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene

Related Concept Videos

Related Articles