Prenatal diagnosis of nail-patella syndrome

Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

Molecular syndromology·2013

Corrupted cultures in mental health inpatient settings. Is restraint reduction the answer?

Journal of psychiatric and mental health nursing·2012

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

Journal of medical genetics·2009

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome.

Neurology·2009

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Journal of medical genetics·2007

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Journal of medical genetics·2006

Role of Fetoscopic Airway Evaluation Immediately Preceding EXIT Procedure in Fetuses With Suspected Airway Obstruction.

Prenatal diagnosis·2026

Cytogenetic and Molecular Findings in Hydrops-Related Mirror Syndrome.

Prenatal diagnosis·2026

Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing.

Prenatal diagnosis·2026

Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?

Prenatal diagnosis·2026

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases.

Prenatal diagnosis·2026

Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.

Prenatal diagnosis·2026

Congenital Heart Defects in Kabuki Syndrome: Perioperative and Long-Term Outcomes from a 25-Year Single-Center Experience.

World journal for pediatric & congenital heart surgery·2026

Comparability of Total Bilirubin methods for neonatal samples across 6 NHS trusts within North West England.

Annals of clinical biochemistry·2026

Triggers, Clinical Manifestations, and Management of Pediatric Erythema Nodosum: A Systematic Review.

Pediatric dermatology·2026

Preterm birth disrupts nephron progenitor cell dynamics predisposing to renal disease.

iScience·2026

Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.

JIMD reports·2026

Hairy Polyp Causing Infant Respiratory Distress: A Case Report.

Cureus·2026

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Prenatal diagnosis of nail-patella syndrome

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Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly.

Corrupted cultures in mental health inpatient settings. Is restraint reduction the answer?

Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.

The common BDNF polymorphism may be a modifier of disease severity in Rett syndrome.

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Comprehensive diagnosis of Rett's syndrome relying on genetic, epigenetic and expression evidence of deficiency of the methyl-CpG-binding protein 2 gene: study of a cohort of Israeli patients.

Role of Fetoscopic Airway Evaluation Immediately Preceding EXIT Procedure in Fetuses With Suspected Airway Obstruction.

Cytogenetic and Molecular Findings in Hydrops-Related Mirror Syndrome.

Beyond the Negative: Insights From Postnatal Medical Genetics Follow-Up After Nondiagnostic Prenatal Exome Sequencing.

Fetal Brain Abnormalities in Trisomy 21 and Associated Neurodevelopmental Outcome: Key Factors to Identify Differences in Neurodevelopmental Outcome?

Prenatal Genetic and Sonographic Features of KBG Syndrome: A Cohort Study of 19 Fetal Cases.

Rare Autosomal Trisomies Detected by Noninvasive Prenatal Testing: Performance, Outcomes, and Exploratory Analysis of the Theoretical Mosaicism Ratio.

Congenital Heart Defects in Kabuki Syndrome: Perioperative and Long-Term Outcomes from a 25-Year Single-Center Experience.

Comparability of Total Bilirubin methods for neonatal samples across 6 NHS trusts within North West England.

Triggers, Clinical Manifestations, and Management of Pediatric Erythema Nodosum: A Systematic Review.

Preterm birth disrupts nephron progenitor cell dynamics predisposing to renal disease.

Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development.

Hairy Polyp Causing Infant Respiratory Distress: A Case Report.

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Prenatal diagnosis of nail-patella syndrome

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