Achalasia Microcephaly Syndrome Latest Advances

Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant.

Journal: The American journal of case reports

Published: August 06, 2026

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Journal: The Israel Medical Association journal : IMAJ

Published: August 06, 2026

Refractory Temporal Gelastic Seizure: A Case Report.

Journal: Nigerian medical journal : journal of the Nigeria Medical Association

Published: August 05, 2026

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.

Journal: The Journal of the Association of Physicians of India

Published: August 03, 2026

A systems-level proteomic analysis identifies kinesin targets of KIFBP during neuronal development.

Journal: bioRxiv : the preprint server for biology

Published: August 01, 2026

Childhood-Onset Refractory Absence Epilepsy as a Presentation of Glucose Transporter 1 Deficiency Syndrome Type 2: A Case Report With a Diagnostic Challenge.

Journal: Journal of child neurology

Published: July 24, 2026

Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Journal: Research square

Published: July 17, 2026

Positivity of anti-Zika virus (ZIKV) antibodies among patients undergoing ART in São Paulo State, Brazil (2016-2024): a retrospective record analysis.

Journal: JBRA assisted reproduction

Published: July 13, 2026

Microcephaly, Agenesis of the Corpus Callosum, and Suspected Blake Pouch Cyst Presenting With Failure to Thrive in an Infant.

Journal: Cureus

Published: July 13, 2026

Integrative Chemical Genetics Platform Identifies Condensate Modulators Linked to Neurological Disorders.

Journal: Molecular biology of the cell

Published: July 08, 2026

Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader-Willi-like Presentation in a Tunisian Family.

Journal: Genetic testing and molecular biomarkers

Published: July 08, 2026

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Journal: Clinical genetics

Published: July 08, 2026

Achalasia Microcephaly Syndrome Latest Advances

Find the Latest Research About Achalasia Microcephaly Syndrome

Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant.

Ophthalmic Manifestations of KIF11-Associated Microcephaly With or Without Chorioretinopathy, Lymphedema, or Intellectual Disability: A Case Report of a Novel Variant.

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Bone Marrow Failure Syndromes: Clinical and Genetic Characterization in TERT-associated Dyskeratosis Congenita.

Refractory Temporal Gelastic Seizure: A Case Report.

Refractory Temporal Gelastic Seizure: A Case Report.

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.

Atypical Presentation of Raine Syndrome in a Middle-aged Lady.

A systems-level proteomic analysis identifies kinesin targets of KIFBP during neuronal development.

A systems-level proteomic analysis identifies kinesin targets of KIFBP during neuronal development.

Childhood-Onset Refractory Absence Epilepsy as a Presentation of Glucose Transporter 1 Deficiency Syndrome Type 2: A Case Report With a Diagnostic Challenge.

Childhood-Onset Refractory Absence Epilepsy as a Presentation of Glucose Transporter 1 Deficiency Syndrome Type 2: A Case Report With a Diagnostic Challenge.

Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Biallelic variants in SUPV3L1 cause a variable leukodystrophy due to impaired mitochondrial degradosome function.

Positivity of anti-Zika virus (ZIKV) antibodies among patients undergoing ART in São Paulo State, Brazil (2016-2024): a retrospective record analysis.

Positivity of anti-Zika virus (ZIKV) antibodies among patients undergoing ART in São Paulo State, Brazil (2016-2024): a retrospective record analysis.

Microcephaly, Agenesis of the Corpus Callosum, and Suspected Blake Pouch Cyst Presenting With Failure to Thrive in an Infant.

Microcephaly, Agenesis of the Corpus Callosum, and Suspected Blake Pouch Cyst Presenting With Failure to Thrive in an Infant.

Integrative Chemical Genetics Platform Identifies Condensate Modulators Linked to Neurological Disorders.

Integrative Chemical Genetics Platform Identifies Condensate Modulators Linked to Neurological Disorders.

Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader-Willi-like Presentation in a Tunisian Family.

Expanding the Phenotypic Spectrum of Trafficking Protein Particle Complex Subunit 9-Related Intellectual Developmental Disorder: Prader-Willi-like Presentation in a Tunisian Family.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.