Severe presentation of Peters'-Plus syndrome

Repression of oxidative phosphorylation by NR2F2, MTERF3 and GDF15 in human skin under high-glucose stress.

Redox biology·2025

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.

BMC health services research·2023

Real-world data in oncology: a questionnaire-based analysis of the academic research landscape examining the policies and experiences of the cancer cooperative groups.

ESMO open·2023

Re-focusing on Agnathia-Otocephaly complex.

Clinical oral investigations·2020

Mitochondrial functions and rare diseases.

Molecular aspects of medicine·2020

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

The British journal of dermatology·2018

Monochorionic dizygotic twins with discordant genetic findings and congenital malformations.

Clinical dysmorphology·2026

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Clinical dysmorphology·2026

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Clinical dysmorphology·2026

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

Clinical dysmorphology·2026

The complete chloroplast genome sequence of Aeschynanthus acuminatus Wall. ex A. DC., a Yao medicinal plant in China.

Mitochondrial DNA. Part B, Resources·2026

Retraction notice to "Growth and tuber yield responses of potato (Solanum tuberosum L.) varieties to seed tuber size in northwest highlands of Ethiopia" [Heliyon 9 (2023) e14586].

Heliyon·2026

The evolutionary path to wide angles: Domain V is required for LAZY1 function, but its loss alone does not confer TAC1-like activity in poplar.

Plant cell reports·2026

Comparative plastome analyses and phylogenetic insights of Stellaria (Caryophyllaceae).

Frontiers in plant science·2026

Integrated clinical-genetic-pathological analysis expands the phenotypic and molecular spectrum of PPNAD across carney complex and isolated forms.

European journal of endocrinology·2026

Identification and Characterization of a Novel Luteovirus Infecting Hosta ventricosa Plants.

Viruses·2026

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Severe presentation of Peters'-Plus syndrome

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Repression of oxidative phosphorylation by NR2F2, MTERF3 and GDF15 in human skin under high-glucose stress.

Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting.

Real-world data in oncology: a questionnaire-based analysis of the academic research landscape examining the policies and experiences of the cancer cooperative groups.

Re-focusing on Agnathia-Otocephaly complex.

Mitochondrial functions and rare diseases.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation.

Monochorionic dizygotic twins with discordant genetic findings and congenital malformations.

Clinical spectrum of acyl-CoA synthetase family member 3-related combined malonic and methylmalonic aciduria: insights from four cases.

Oculoskeletodental syndrome: expansion and review of the clinical and molecular phenotype.

Identification of a novel mutation in metabotropic glutamate receptor 1 causing autosomal recessive spinocerebellar ataxia-13 in a Pakistani family.

The complete chloroplast genome sequence of Aeschynanthus acuminatus Wall. ex A. DC., a Yao medicinal plant in China.

Retraction notice to "Growth and tuber yield responses of potato (Solanum tuberosum L.) varieties to seed tuber size in northwest highlands of Ethiopia" [Heliyon 9 (2023) e14586].

The evolutionary path to wide angles: Domain V is required for LAZY1 function, but its loss alone does not confer TAC1-like activity in poplar.

Comparative plastome analyses and phylogenetic insights of Stellaria (Caryophyllaceae).

Integrated clinical-genetic-pathological analysis expands the phenotypic and molecular spectrum of PPNAD across carney complex and isolated forms.

Identification and Characterization of a Novel Luteovirus Infecting Hosta ventricosa Plants.

Related Experiment Videos

Severe presentation of Peters'-Plus syndrome

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