Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clinical genetics·2010

Risk factors for infections related to external ventricular drainage.

Acta neurochirurgica·2008

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Clinical genetics·2007

The value of MLPA in Waardenburg syndrome.

Genetic testing·2007

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Prenatal diagnosis·2005

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Clinical genetics·2005

Assessing Teaching and Tomorrow, a Trainee Pathway Program in Pediatric Gastroenterology.

The Journal of pediatrics·2026

Development of Perinatal Social Determinants of Health Composite Risk Score in Infants Born Preterm.

The Journal of pediatrics·2026

Long-Term Outcomes of Expectant Management Versus Early Ibuprofen for Patent Ductus Arteriosus: 24-Month Follow-Up of the BeNeDuctus Trial.

The Journal of pediatrics·2026

Infection Triggered Encephalopathies in Australian Children: A National Multicentre Case Series 2013-2024.

The Journal of pediatrics·2026

The Evolving Legal Landscape of Necrotizing Enterocolitis in Neonatology: What Years of Litigation Inform us About the Future.

The Journal of pediatrics·2026

Trends in Emergency Department Visits for Children, 2016-2023.

The Journal of pediatrics·2026

Circulating lysophosphatidylethanolamine species are associated with pericoronary adipose tissue inflammation and coronary atherosclerotic burden in type 2 diabetes.

Diabetes & vascular disease research·2026

Prevalence and Associated Factors of Metabolic Syndrome in Patients With Systemic Lupus Erythematosus: A Cross-Sectional Study.

Cureus·2026

Abdominal Wall Hernia After Metabolic and Bariatric Surgery: A Narrative Review.

Journal of metabolic and bariatric surgery·2026

[Development and Validation of an Analytical Method for the Determination of Diethylstilbestrol, Dienestrol, Hexestrol, and Their Conjugates in Bovine Muscle].

Shokuhin eiseigaku zasshi. Journal of the Food Hygienic Society of Japan·2026

Phytosterol content in lipid components used in patients receiving parenteral nutrition.

Farmacia hospitalaria : organo oficial de expresion cientifica de la Sociedad Espanola de Farmacia Hospitalaria·2026

[Yangtze river delta expert consensus on biodegradable nasal packing materials in nasal surgery].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery·2026

Related Experiment Videos

Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy

Related Concept Videos

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Risk factors for infections related to external ventricular drainage.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Assessing Teaching and Tomorrow, a Trainee Pathway Program in Pediatric Gastroenterology.

Development of Perinatal Social Determinants of Health Composite Risk Score in Infants Born Preterm.

Long-Term Outcomes of Expectant Management Versus Early Ibuprofen for Patent Ductus Arteriosus: 24-Month Follow-Up of the BeNeDuctus Trial.

Infection Triggered Encephalopathies in Australian Children: A National Multicentre Case Series 2013-2024.

The Evolving Legal Landscape of Necrotizing Enterocolitis in Neonatology: What Years of Litigation Inform us About the Future.

Trends in Emergency Department Visits for Children, 2016-2023.

Circulating lysophosphatidylethanolamine species are associated with pericoronary adipose tissue inflammation and coronary atherosclerotic burden in type 2 diabetes.

Prevalence and Associated Factors of Metabolic Syndrome in Patients With Systemic Lupus Erythematosus: A Cross-Sectional Study.

Abdominal Wall Hernia After Metabolic and Bariatric Surgery: A Narrative Review.

[Development and Validation of an Analytical Method for the Determination of Diethylstilbestrol, Dienestrol, Hexestrol, and Their Conjugates in Bovine Muscle].

Phytosterol content in lipid components used in patients receiving parenteral nutrition.

[Yangtze river delta expert consensus on biodegradable nasal packing materials in nasal surgery].

Related Experiment Videos

Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy

Related Concept Videos

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