New autosomal syndromes: trisomies 4p and 9p

Congenital heart defects in the recurrent 2q13 deletion syndrome.

European journal of medical genetics·2021

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Clinical genetics·2018

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Clinical genetics·2018

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Clinical genetics·2017

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Clinical genetics·2017

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Molecular syndromology·2013

Prevalence and forms of congenital anomalies in twins born in Pomeranian District during the period from 1.07.1997 to 31.12.1998. Polish Register of Congenital Anomalies.

Acta geneticae medicae et gemellologiae·2000

Analysis of triple test results in 27 cases of twin pregnancies.

Acta geneticae medicae et gemellologiae·2000

Long-term follow-up study of somatic development in prematurely born twins after life-threatening episodes.

Acta geneticae medicae et gemellologiae·2000

Ultrasound in the diagnosis of twin-to-twin transfusion syndrome--a preliminary report.

Acta geneticae medicae et gemellologiae·2000

From the research on electrophoretical mobility of nuclei in twins.

Acta geneticae medicae et gemellologiae·2000

Neurodevelopmental dysfunction and specific learning disabilities in school-aged twins.

Acta geneticae medicae et gemellologiae·2000

Preimplantation genetic testing and prenatal diagnosis of TANGO2 deficiency disorder with biallelic pathogenic variants using single-nucleotide polymorphism-based haplotyping and gap-polymerase chain reaction.

Frontiers in genetics·2026

Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes.

Frontiers in genetics·2026

Notch-Regulated Hematopoiesis in Drosophila: Parallels and Contrasts with Vertebrate Blood Development.

Developmental biology·2026

Serotonin deficiency caused by inactivation of Tph2 in mice leads to widespread sex-dependent changes in cerebral oxidative metabolic activity.

Journal of neural transmission (Vienna, Austria : 1996)·2026

Haplotype-resolved genome assembly of a male Dioscorea alata cultivar reveals the structure and evolution of young sex chromosomes.

The Plant journal : for cell and molecular biology·2026

Low-Level Viremia and Spatial Heterogeneity Among Individuals on Dolutegravir-Based Antiretroviral Therapy in Botswana: A Nationwide Study (2016-2022).

The Journal of infectious diseases·2026

Related Experiment Videos

New autosomal syndromes: trisomies 4p and 9p

Related Concept Videos

Congenital heart defects in the recurrent 2q13 deletion syndrome.

Atrioventricular canal defect and genetic syndromes: The unifying role of sonic hedgehog.

Intrafamiliar clinical variability of circumferential skin creases Kunze type caused by a novel heterozygous mutation of N-terminal TUBB gene.

Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review.

Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome.

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations.

Prevalence and forms of congenital anomalies in twins born in Pomeranian District during the period from 1.07.1997 to 31.12.1998. Polish Register of Congenital Anomalies.

Analysis of triple test results in 27 cases of twin pregnancies.

Long-term follow-up study of somatic development in prematurely born twins after life-threatening episodes.

Ultrasound in the diagnosis of twin-to-twin transfusion syndrome--a preliminary report.

From the research on electrophoretical mobility of nuclei in twins.

Neurodevelopmental dysfunction and specific learning disabilities in school-aged twins.

Preimplantation genetic testing and prenatal diagnosis of TANGO2 deficiency disorder with biallelic pathogenic variants using single-nucleotide polymorphism-based haplotyping and gap-polymerase chain reaction.

Clinical and genetic features of syndromic craniosynostosis in 18 Chinese probands: novel candidate genes and phenotypes of known pathogenic genes.

Notch-Regulated Hematopoiesis in Drosophila: Parallels and Contrasts with Vertebrate Blood Development.

Serotonin deficiency caused by inactivation of Tph2 in mice leads to widespread sex-dependent changes in cerebral oxidative metabolic activity.

Haplotype-resolved genome assembly of a male Dioscorea alata cultivar reveals the structure and evolution of young sex chromosomes.

Low-Level Viremia and Spatial Heterogeneity Among Individuals on Dolutegravir-Based Antiretroviral Therapy in Botswana: A Nationwide Study (2016-2022).

Related Experiment Videos

New autosomal syndromes: trisomies 4p and 9p

Related Concept Videos

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