Hypophosphatasia: screening and family investigation

Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.

Journal of inherited metabolic disease·2009

Excess of malignancies in grandparents of children with malformations? Short communication.

Acta biologica Hungarica·2006

Increased prevalence of factor V Leiden mutation in premature but not in full-term infants with grade I intracranial haemorrhage.

Biology of the neonate·2004

Association of nonsyndromic Wilms tumor with premature centromere division (PCD).

American journal of medical genetics·2002

Increased frequency of the C3*F allele and the Leiden mutation of coagulation factor V in patients with severe coronary heart disease who survived myocardial infarction.

Experimental and clinical immunogenetics·2002

[Ultrasound-guided hydrostatic reduction of intussusception].

Orvosi hetilap·2001

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Clinical genetics·2026

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Clinical genetics·2026

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Clinical genetics·2026

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Clinical genetics·2026

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Clinical genetics·2026

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Clinical genetics·2026

Domains of Family Empowerment for Self-Management in Palliative Care: A Scoping Review.

Journal of palliative care·2026

Daily associations of posttraumatic stress disorder symptoms and sleep health on family functioning among US Asian Indians with intimate partner violence experiences.

Journal of anxiety disorders·2026

Financial Toxicity Among Family Caregivers of Pediatric, Adolescent, and Young Adult Patients With Cancer: A Qualitative Meta-Synthesis.

Oncology nursing forum·2026

["It all starts with welcoming": access, acceptability and elements for the promotion of the health of adolescents and young people in primary care].

Cadernos de saude publica·2026

Family and school support systems associated with mental health in Chinese migrant and non-migrant children.

Frontiers in psychology·2026

Evaluating the Impact on Adult Caregivers of Family-Based Treatment for Childhood Obesity.

Obesity science & practice·2026

Related Experiment Videos

Hypophosphatasia: screening and family investigation

Related Concept Videos

Plasma carnitine ester profile in homozygous and heterozygous OCTN2 deficiency.

Excess of malignancies in grandparents of children with malformations? Short communication.

Increased prevalence of factor V Leiden mutation in premature but not in full-term infants with grade I intracranial haemorrhage.

Association of nonsyndromic Wilms tumor with premature centromere division (PCD).

Increased frequency of the C3*F allele and the Leiden mutation of coagulation factor V in patients with severe coronary heart disease who survived myocardial infarction.

[Ultrasound-guided hydrostatic reduction of intussusception].

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long-Read Sequencing.

Establishing a Prognosis When Identifying Pathogenic Variants in Usher Syndrome/DFNB-Related Genes: An Impossible Challenge?

Recurrent Sterile Polyserositis Reveals an Underrecognized Autoinflammatory Phenotype in MECP2 Duplication Syndrome.

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease.

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border.

Domains of Family Empowerment for Self-Management in Palliative Care: A Scoping Review.

Daily associations of posttraumatic stress disorder symptoms and sleep health on family functioning among US Asian Indians with intimate partner violence experiences.

Financial Toxicity Among Family Caregivers of Pediatric, Adolescent, and Young Adult Patients With Cancer: A Qualitative Meta-Synthesis.

["It all starts with welcoming": access, acceptability and elements for the promotion of the health of adolescents and young people in primary care].

Family and school support systems associated with mental health in Chinese migrant and non-migrant children.

Evaluating the Impact on Adult Caregivers of Family-Based Treatment for Childhood Obesity.

Related Experiment Videos

Hypophosphatasia: screening and family investigation

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