EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3

Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro.

Prenatal diagnosis·2005

Morphological and cytogenetic analysis of intact oocytes and blocked zygotes.

Prenatal diagnosis·2003

Induction of DNA replication in adult rat neurons by deregulation of the retinoblastoma/E2F G1 cell cycle pathway.

Cell growth & differentiation : the molecular biology journal of the American Association for Cancer Research·2001

Increased incidence of trisomy 8 in acute myeloid leukemia with skin infiltration (leukemia cutis).

Diagnostic molecular pathology : the American journal of surgical pathology, part B·2000

ETV6/CBFA2 fusions in childhood B-cell precursor acute lymphoblastic leukemia with myeloid markers.

Diagnostic molecular pathology : the American journal of surgical pathology, part B·2000

Three probands with autistic disorder and isodicentric chromosome 15.

American journal of medical genetics·2000

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

Clinical genetics·2026

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

Long-term trends (1987-2020) and seasonal characteristics of atmospheric 7Be activity concentration in Japan based on continuous measurements.

Journal of environmental radioactivity·2026

Environmental heterogeneity dominates the regulation of metabolites in ephemeral plants by the rhizosphere microbial community.

Frontiers in plant science·2026

Genesis mechanisms of medium- and low- temperature convective geothermal fields in Wenquan County, Xinjiang.

PloS one·2026

Infrared stimulation of mitochondrial metabolism in deep-sea yeast expands the energetic framework of hydrothermal ecosystems.

ISME communications·2026

Mechanistic understanding of soil arsenic enrichment and selenium deficiency in the Qinghai-Tibet Plateau via integrated geographically weighted regression and machine learning.

Environmental pollution (Barking, Essex : 1987)·2026

Prokaryotic and microbial eukaryotic communities across acid-sulfate and chloride-rich hot springs in Lassen Volcanic National Park.

Scientific reports·2026

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EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3

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Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro.

Morphological and cytogenetic analysis of intact oocytes and blocked zygotes.

Induction of DNA replication in adult rat neurons by deregulation of the retinoblastoma/E2F G1 cell cycle pathway.

Increased incidence of trisomy 8 in acute myeloid leukemia with skin infiltration (leukemia cutis).

ETV6/CBFA2 fusions in childhood B-cell precursor acute lymphoblastic leukemia with myeloid markers.

Three probands with autistic disorder and isodicentric chromosome 15.

Sotos and Malan Syndromes in Childhood: Molecular and Clinical Findings From a Nationwide Cohort of 48 Patients.

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.

Long-term trends (1987-2020) and seasonal characteristics of atmospheric 7Be activity concentration in Japan based on continuous measurements.

Environmental heterogeneity dominates the regulation of metabolites in ephemeral plants by the rhizosphere microbial community.

Genesis mechanisms of medium- and low- temperature convective geothermal fields in Wenquan County, Xinjiang.

Infrared stimulation of mitochondrial metabolism in deep-sea yeast expands the energetic framework of hydrothermal ecosystems.

Mechanistic understanding of soil arsenic enrichment and selenium deficiency in the Qinghai-Tibet Plateau via integrated geographically weighted regression and machine learning.

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EEC syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) is on 7p11.2-q21.3

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