Reconstructing haplotypes in pedigrees: importance of parental information

Outcomes of 3D-printed titanium cages for surgical reconstruction in infectious spondylodiscitis: a systematic review.

Journal of spine surgery (Hong Kong)·2026

Evaluation of mitoxantrone hydrochloride injection versus carbon nanoparticle suspension in robotic thyroidectomy for papillary thyroid carcinoma.

Journal of robotic surgery·2026

Humans homozygous for rare or common hypomorphic IL23R variants are prone to tuberculosis.

The Journal of experimental medicine·2026

A Review of the Potential Therapeutic Benefits of Quercetin for Uterine-Related Conditions.

Biomedicines·2026

Effectiveness of a culturally adapted psychoeducational intervention for family caregivers of children with hematologic malignancy: a randomized controlled trial.

Frontiers in psychiatry·2026

Bidirectional risk stratification of calcium disturbances after parathyroidectomy in dialysis patients with secondary hyperparathyroidism: development and validation of a multinomial nomogram.

Endocrine·2026

Expansion of the Clinical Spectrum of Autosomal Recessive Fatty Acyl-CoA Reductase 1 (FAR1) Deficiency: A Previously Unreported Association With Imperforate Anus-A Case Report.

American journal of medical genetics. Part A·2026

A Novel de Novo WAC Frameshift Variant in DeSanto-Shinawi Syndrome With Temporo-Occipital Epileptiform Activity and Congenital Cardiac Anomalies.

American journal of medical genetics. Part A·2026

Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.

American journal of medical genetics. Part A·2026

Lethal Congenital Contracture Syndrome Type 3 in an Isolated Canadian Population.

American journal of medical genetics. Part A·2026

Identifying the Potential Role of Missense KIRREL3 Variants in Neurodevelopmental Phenotypes: A Case Series.

American journal of medical genetics. Part A·2026

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers.

American journal of medical genetics. Part A·2026

Newborn screening and biobanking for preventable genetic disorders in Mongolia: A developing country perspective.

Regenerative therapy·2026

Whole-genome resequencing with multidimensional annotation revealed pathogenic networks in sirenomelia.

Italian journal of pediatrics·2026

Human Loss-of-Function ZNRF3 Mutation Impairs Adipose Thermogenesis and Drives Subcutaneous Fat Expansion.

Diabetes·2026

Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

Frontiers in genetics·2026

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

Journal of biomedical science·2026

Identification and functional characterization of a SUZ12 frameshift variant in a Chinese family with Imagawa-Matsumoto syndrome.

BMC medical genomics·2026

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Reconstructing haplotypes in pedigrees: importance of parental information

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Outcomes of 3D-printed titanium cages for surgical reconstruction in infectious spondylodiscitis: a systematic review.

Evaluation of mitoxantrone hydrochloride injection versus carbon nanoparticle suspension in robotic thyroidectomy for papillary thyroid carcinoma.

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A Review of the Potential Therapeutic Benefits of Quercetin for Uterine-Related Conditions.

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Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.

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Integrated genetic identification and molecular dynamics simulations in a novel LOXL3 genetic mutation associated with Stickler syndrome.

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants.

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Reconstructing haplotypes in pedigrees: importance of parental information

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