Developmental aspects in apple peel intestinal atresia-ocular anomalies-microcephaly syndrome

Jumping for recognition: Women's ski jumping viewed as a struggle for rights.

Scandinavian journal of medicine & science in sports·2016

The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.

European journal of neurology·2015

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Human genetics·2013

Male-specific DNA in the dioecious species Atriplex garrettii (Chenopodiaceae).

American journal of botany·2011

Learning disabilities and language pathology in patients with galactosemia.

Logopedics, phoniatrics, vocology·2011

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.

American journal of medical genetics. Part A·2011

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

Congenital Heart Defect Screening Among Children with Down Syndrome in Rwanda: A Cross-Sectional Study.

Pediatric health, medicine and therapeutics·2026

Magnetic Resonance Imaging Findings in Children with Papilledema.

Neuro-ophthalmology (Aeolus Press)·2026

Association of Neutrophil Percentage-to-Albumin Ratio With Mortality in ICU Patients With Acute Pancreatitis: A Retrospective Study.

JGH open : an open access journal of gastroenterology and hepatology·2026

Suspected Metronidazole-Induced Acute Pancreatitis in a Three-Year-Old Child Following Treatment for Entamoeba histolytica Gastroenteritis: A Case Report.

Cureus·2026

Burden of childhood obesity in Pacific Islands Countries and Territories.

The Lancet regional health. Western Pacific·2026

Endoscopic ultrasound-guided gastroenterostomy for the treatment of malignant gastric outlet obstruction in a 3-year-old boy.

VideoGIE : an official video journal of the American Society for Gastrointestinal Endoscopy·2026

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Developmental aspects in apple peel intestinal atresia-ocular anomalies-microcephaly syndrome

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Jumping for recognition: Women's ski jumping viewed as a struggle for rights.

The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.

Male-specific DNA in the dioecious species Atriplex garrettii (Chenopodiaceae).

Learning disabilities and language pathology in patients with galactosemia.

A translocation between Xq21.33 and 22q13.33 causes an intragenic SHANK3 deletion in a woman with Phelan-McDermid syndrome and hypergonadotropic hypogonadism.

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

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

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

Congenital Heart Defect Screening Among Children with Down Syndrome in Rwanda: A Cross-Sectional Study.

Magnetic Resonance Imaging Findings in Children with Papilledema.

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