Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limbs Defects Latest Advances

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: June 15, 2023

Investigation of (Epi)genetic causes in syndromic short children born small for gestational age.

Journal: European journal of medical genetics

Published: April 24, 2023

Evaluating the challenges and needs of parents caring for children with Williams syndrome: A preliminary study from Poland.

Journal: Research in developmental disabilities

Published: March 22, 2023

The impact of parental psychological distress on child behavior issues in hospitalized children.

Journal: La Pediatria medica e chirurgica : Medical and surgical pediatrics

Published: February 10, 2023

A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation.

Journal: Pediatric blood & cancer

Published: February 05, 2023

Vulnerable Child Syndrome in the International Community.

Journal: Pediatric annals

Published: December 08, 2022

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CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment.

CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment.

Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.

Comprehensive survey of disease-causing missense mutations of the cholesterol synthesis enzyme NSDHL: Low temperature and a chemical chaperone rescue low protein expression of select mutants.

5% Simvastatin Ointment as Treatment for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD) Syndrome in a 4-year-old Female: A Case Report.

5% Simvastatin Ointment as Treatment for Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects (CHILD) Syndrome in a 4-year-old Female: A Case Report.

Hyperkeratotic Nodule on the Knee in a Patient With KID Syndrome.

Hyperkeratotic Nodule on the Knee in a Patient With KID Syndrome.

Arabidopsis 3β-Hydroxysteroid Dehydrogenases/C4-Decarboxylases Are Essential for the Pollen and Embryonic Development.

Arabidopsis 3β-Hydroxysteroid Dehydrogenases/C4-Decarboxylases Are Essential for the Pollen and Embryonic Development.

Cholesterol Pathway Gene Variants and Reduced Keratinocyte Cholesterol Support a Final Common Druggable Pathway in Hyperproliferative Inflammatory Skin Diseases.

Cholesterol Pathway Gene Variants and Reduced Keratinocyte Cholesterol Support a Final Common Druggable Pathway in Hyperproliferative Inflammatory Skin Diseases.

Percutaneous Bone-Anchored Hearing Implant Surgery: Do Syndromic Children Have More Adverse Perioperative Outcomes?

Percutaneous Bone-Anchored Hearing Implant Surgery: Do Syndromic Children Have More Adverse Perioperative Outcomes?

Investigation of (Epi)genetic causes in syndromic short children born small for gestational age.

Investigation of (Epi)genetic causes in syndromic short children born small for gestational age.

Evaluating the challenges and needs of parents caring for children with Williams syndrome: A preliminary study from Poland.

Evaluating the challenges and needs of parents caring for children with Williams syndrome: A preliminary study from Poland.

The impact of parental psychological distress on child behavior issues in hospitalized children.

The impact of parental psychological distress on child behavior issues in hospitalized children.

A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation.

A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation.

Vulnerable Child Syndrome in the International Community.

Vulnerable Child Syndrome in the International Community.