Trisomy 20q. A new case and further phenotypic delineation

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

The British journal of dermatology·2018

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

The British journal of dermatology·2018

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

Clinical genetics·2018

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

Clinical genetics·2018

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

Molecular genetics and metabolism·2018

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Neurogenetics·2018

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Clinical genetics·2026

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Clinical genetics·2026

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical genetics·2026

Miscarriage Trends and Blood Group Associations During the COVID-19 Pandemic: A Comparative Study in Ramsar, Iran.

Iranian journal of nursing and midwifery research·2026

The Application Value of Chromosome Microarray Analysis in Prenatal Diagnosis of Clinically Relevant Copy Number Variations in Fetuses.

International journal of women's health·2026

Critical Care-Based Decision-Making and Timing of Pregnancy Termination in Hypertriglyceridemia-Induced Acute Pancreatitis Complicated by Diabetic Ketoacidosis and Intrauterine Fetal Demise: A Case Report.

Case reports in critical care·2026

Long-Term Cardiac Remodeling During Migalastat Therapy in a Heterozygote Woman With Fabry Disease (N224S): A 9 Year Case Report.

The American journal of case reports·2026

Not all abnormal fertilization is equal: occurrence, developmental competence, and ploidy outcomes of 1PN, 3PN, and 2.1PN zygotes in ICSI/PGT-A cycles.

Journal of assisted reproduction and genetics·2026

Emergence and spread of Plasmodium falciparum PX1 polymorphisms associated with decreased susceptibility to antimalarials in Uganda.

Nature medicine·2026

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Trisomy 20q. A new case and further phenotypic delineation

Related Concept Videos

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

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

IL11RA-related Crouzon-like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences.

NR4A2 haploinsufficiency is associated with intellectual disability and autism spectrum disorder.

Genetic assessment and folate receptor autoantibodies in infantile-onset cerebral folate deficiency (CFD) syndrome.

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype.

Genetic Architecture of Pediatric Cardiomyopathies Assessed by Whole-Exome Sequencing: Insights Into Early-Onset and Syndromic Forms.

Two Japanese Cases Highlighting Structural and Phenotypic Overlap in AGO1- and AGO2-Related Neurodevelopmental Disorders.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Miscarriage Trends and Blood Group Associations During the COVID-19 Pandemic: A Comparative Study in Ramsar, Iran.

The Application Value of Chromosome Microarray Analysis in Prenatal Diagnosis of Clinically Relevant Copy Number Variations in Fetuses.

Critical Care-Based Decision-Making and Timing of Pregnancy Termination in Hypertriglyceridemia-Induced Acute Pancreatitis Complicated by Diabetic Ketoacidosis and Intrauterine Fetal Demise: A Case Report.

Long-Term Cardiac Remodeling During Migalastat Therapy in a Heterozygote Woman With Fabry Disease (N224S): A 9 Year Case Report.

Not all abnormal fertilization is equal: occurrence, developmental competence, and ploidy outcomes of 1PN, 3PN, and 2.1PN zygotes in ICSI/PGT-A cycles.

Emergence and spread of Plasmodium falciparum PX1 polymorphisms associated with decreased susceptibility to antimalarials in Uganda.

Related Experiment Videos

Trisomy 20q. A new case and further phenotypic delineation

Abstract:

Related Concept Videos

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