4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis

MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.

Journal of endocrinological investigation·2023

Acute chest syndrome in children with sickle cell disease: Data from a national AIEOP cohort identify priority areas of intervention in a hub-and-spoke system.

British journal of haematology·2023

Long-term results of arthroscopic repair of type II SLAP lesions in sports: assessment of return to pre-injury playing level and critical risk factors for complication.

European journal of orthopaedic surgery & traumatology : orthopedie traumatologie·2023

Association between non-alcoholic fatty liver disease and subclinical hypothyroidism in children with obesity.

Journal of endocrinological investigation·2023

A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.

Journal of endocrinological investigation·2022

Phenotypes of prediabetes and metabolic risk in Caucasian youths with overweight or obesity.

Journal of endocrinological investigation·2022

Response to Comment on: "Decreasing excess mortality after allogeneic stem cell transplantation for acute leukemia".

Haematologica·2026

Salvage of primary graft failure with allogeneic hematopoietic stem cell transplantation from a deceased organ donor: report of a novel graft source.

Haematologica·2026

Philadelphia chromosome-like acute lymphoblastic leukemia: treat intensively, transplant selectively.

Haematologica·2026

The role of CHIP and pre-treatment neutropenia in patients treated with chimeric antigen receptor T cells for hematological malignancies.

Haematologica·2026

Measurable residual disease-negative remission of BRAF-V600Emutated acute myeloid leukemia with dabrafenib and trametinib.

Haematologica·2026

CD25-based graft-versus-host disease prophylaxis after haploidentical hematopoietic stem cell transplantation: comparison of two prophylactic strategies.

Haematologica·2026

Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy.

Molecular genetics & genomic medicine·2026

Astrocytic cathepsin D promotes α-synuclein processing and Lewy neurite-like aggregate maturation.

EMBO reports·2026

Long-term clinical and biomarker observations following rituximab exposure in two siblings with CSF1R-related leukoencephalopathy: a preliminary familial case series.

Communications medicine·2026

What can narcolepsy teach us about hypocretin and dementia?

Ageing research reviews·2026

Estradiol Attenuates Cardiac Apoptosis and Modulates Cardiovascular Remodeling in Ovariectomized Female Rats with 6-Hydroxydopamine-Induced Parkinsonism.

Physiology & behavior·2026

From patient cells to patient therapy: Twenty years of iPSC-based translation in neurodegenerative disease.

Cell reports. Medicine·2026

Related Experiment Videos

4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis

Related Concept Videos

MKRN3 circulating levels in girls with central precocious puberty caused by MKRN3 gene mutations.

Acute chest syndrome in children with sickle cell disease: Data from a national AIEOP cohort identify priority areas of intervention in a hub-and-spoke system.

Long-term results of arthroscopic repair of type II SLAP lesions in sports: assessment of return to pre-injury playing level and critical risk factors for complication.

Association between non-alcoholic fatty liver disease and subclinical hypothyroidism in children with obesity.

A new DLK1 defect in a family with idiopathic central precocious puberty: elucidation of the male phenotype.

Phenotypes of prediabetes and metabolic risk in Caucasian youths with overweight or obesity.

Response to Comment on: "Decreasing excess mortality after allogeneic stem cell transplantation for acute leukemia".

Salvage of primary graft failure with allogeneic hematopoietic stem cell transplantation from a deceased organ donor: report of a novel graft source.

Philadelphia chromosome-like acute lymphoblastic leukemia: treat intensively, transplant selectively.

The role of CHIP and pre-treatment neutropenia in patients treated with chimeric antigen receptor T cells for hematological malignancies.

Measurable residual disease-negative remission of BRAF-V600Emutated acute myeloid leukemia with dabrafenib and trametinib.

CD25-based graft-versus-host disease prophylaxis after haploidentical hematopoietic stem cell transplantation: comparison of two prophylactic strategies.

Clinical Practice of Single-Molecule Real-Time Sequencing in the Diagnosis of Spinal Muscular Atrophy.

Astrocytic cathepsin D promotes α-synuclein processing and Lewy neurite-like aggregate maturation.

Long-term clinical and biomarker observations following rituximab exposure in two siblings with CSF1R-related leukoencephalopathy: a preliminary familial case series.

What can narcolepsy teach us about hypocretin and dementia?

Estradiol Attenuates Cardiac Apoptosis and Modulates Cardiovascular Remodeling in Ovariectomized Female Rats with 6-Hydroxydopamine-Induced Parkinsonism.

From patient cells to patient therapy: Twenty years of iPSC-based translation in neurodegenerative disease.

Related Experiment Videos

4.2 Nippon mutation in a non-Japanese patient with hereditary spherocytosis

Related Concept Videos

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