'Novel' immunodeficiency syndrome may be a previously described entity

Assessment of the optic nerve using strain and shear-wave elastography in patients with pseudotumour cerebri.

Clinical radiology·2020

Interleukin-6 and C-reactive protein load in pre-storage and post-storage white blood cell-filtered red blood cell transfusions in premature infants.

Transfusion medicine (Oxford, England)·2015

Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report.

Genetic counseling (Geneva, Switzerland)·2014

Trial of a new pain assessment tool in patients with low education: the full cup test.

International journal of clinical practice·2007

Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome.

Clinical dysmorphology·2003

Molecular cytogenetics.

Seminars in pediatric neurology·2001

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

Clinical genetics·2026

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical genetics·2026

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Clinical genetics·2026

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Clinical genetics·2026

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Clinical genetics·2026

Spinal Muscular Atrophy in Adult Neurology Services in India.

Clinical genetics·2026

SMARCB1/INI1-deficient peripheral T-cell lymphoma: two cases expanding the spectrum of an emerging entity and a review of the literature.

Virchows Archiv : an international journal of pathology·2026

Unexplained Massive Pericardial Effusion Revealing Intrapericardial Lymphangioma.

JACC. Case reports·2026

Case report on ileosigmoid knotting: a rare cause of intestinal obstruction.

International journal of surgery case reports·2026

Neuroretinitis due to Bartonella henselae in a returning traveler from Colombia.

IDCases·2026

Bilateral testicular infiltration as the initial presentation of NRAS-mutant juvenile myelomonocytic leukemia: rapid molecular remission following azacitidine and haploidentical stem cell transplantation.

Leukemia research reports·2026

A Case of Desmoplastic Medulloblastoma Initially Misdiagnosed as Lymphoma in a 54-year Female Patient.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP·2026

Related Experiment Videos

'Novel' immunodeficiency syndrome may be a previously described entity

Related Concept Videos

Assessment of the optic nerve using strain and shear-wave elastography in patients with pseudotumour cerebri.

Interleukin-6 and C-reactive protein load in pre-storage and post-storage white blood cell-filtered red blood cell transfusions in premature infants.

Partial trisomy 3p and partial monosomy 11q associated with double outlet right ventricle and septum pellucidum et vergae: a case report.

Trial of a new pain assessment tool in patients with low education: the full cup test.

Sensorineural hearing loss and enamel hypoplasia with subtle nail findings: another family with Heimler's syndrome.

Molecular cytogenetics.

Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum.

A De Novo DHX16 Variant Associated With Neuromuscular Oculoauditory Syndrome Regulates Pre-mRNA Splicing In Vitro.

Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1-Related Noonan Syndrome.

Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Chorea-Acanthocytosis Without Acanthocytosis: Sensory Neuronopathy and Epilepsy as Prominent Features From a Novel VPS13A Variant.

Spinal Muscular Atrophy in Adult Neurology Services in India.

SMARCB1/INI1-deficient peripheral T-cell lymphoma: two cases expanding the spectrum of an emerging entity and a review of the literature.

Unexplained Massive Pericardial Effusion Revealing Intrapericardial Lymphangioma.

Case report on ileosigmoid knotting: a rare cause of intestinal obstruction.

Neuroretinitis due to Bartonella henselae in a returning traveler from Colombia.

Bilateral testicular infiltration as the initial presentation of NRAS-mutant juvenile myelomonocytic leukemia: rapid molecular remission following azacitidine and haploidentical stem cell transplantation.

A Case of Desmoplastic Medulloblastoma Initially Misdiagnosed as Lymphoma in a 54-year Female Patient.

Related Experiment Videos

'Novel' immunodeficiency syndrome may be a previously described entity

Related Concept Videos

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