The Hunter syndrome in a 46 XX girl

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Clinical genetics·2010

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

Clinical genetics·2007

The value of MLPA in Waardenburg syndrome.

Genetic testing·2007

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Prenatal diagnosis·2005

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Clinical genetics·2005

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Clinical genetics·2004

Pulmonary Nodules.

The New England journal of medicine·2026

Daraxonrasib for Previously Treated RAS-Mutant Non-Small-Cell Lung Cancer.

The New England journal of medicine·2026

Azacitidine-Venetoclax or Induction Chemotherapy for Acute Myeloid Leukemia.

The New England journal of medicine·2026

Catheter-Directed Thrombolysis in Intermediate-High-Risk Pulmonary Embolism.

The New England journal of medicine·2026

Timing of PCI in Patients Undergoing Transcatheter Aortic-Valve Implantation.

The New England journal of medicine·2026

Pulmonary Denervation for Heart Failure-Related Pulmonary Hypertension.

The New England journal of medicine·2026

What Survivors Remembered: Cognitive and Experiential Themes in Trauma Narratives From the Deadliest Mass Shooting in Modern American History.

Psychological science·2026

Lost in transmission? Comparing emotional profiles in transmitted vs. remembered family memories.

Memory (Hove, England)·2026

Joint changes in subjective memory and objective cognition and risk of incident functional dependence: A harmonized analysis of four aging cohorts.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2026

Beyond the arcsine law: Aging statistics of the occupation time in jump processes.

Physical review. E·2026

Hair cortisol and other analytes continue to decline and show reduced stability after two years of storage: Follow-up data from a systematic within-subject investigation.

Comprehensive psychoneuroendocrinology·2026

Assessment of variation in symphyseal morphology among Middle Stone Age hominin mandibles from Klasies River Main Site, South Africa, by diffeomorphic surface mapping.

Anatomical record (Hoboken, N.J. : 2007)·2026

Related Experiment Videos

The Hunter syndrome in a 46 XX girl

Related Concept Videos

Novel intragenic deletion in OPHN1 in a family causing XLMR with cerebellar hypoplasia and distinctive facial appearance.

Pallister-Killian syndrome: tetrasomy of 12pter-->12p11.22 in a boy with an analphoid, inverted duplicated marker chromosome.

The value of MLPA in Waardenburg syndrome.

The prenatal diagnosis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) by mutation analysis.

Characterization of an analphoid supernumerary marker chromosome derived from 15q25-->qter using high-resolution CGH and multiplex FISH analyses.

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects.

Pulmonary Nodules.

Daraxonrasib for Previously Treated RAS-Mutant Non-Small-Cell Lung Cancer.

Azacitidine-Venetoclax or Induction Chemotherapy for Acute Myeloid Leukemia.

Catheter-Directed Thrombolysis in Intermediate-High-Risk Pulmonary Embolism.

Timing of PCI in Patients Undergoing Transcatheter Aortic-Valve Implantation.

Pulmonary Denervation for Heart Failure-Related Pulmonary Hypertension.

What Survivors Remembered: Cognitive and Experiential Themes in Trauma Narratives From the Deadliest Mass Shooting in Modern American History.

Lost in transmission? Comparing emotional profiles in transmitted vs. remembered family memories.

Joint changes in subjective memory and objective cognition and risk of incident functional dependence: A harmonized analysis of four aging cohorts.

Beyond the arcsine law: Aging statistics of the occupation time in jump processes.

Hair cortisol and other analytes continue to decline and show reduced stability after two years of storage: Follow-up data from a systematic within-subject investigation.

Assessment of variation in symphyseal morphology among Middle Stone Age hominin mandibles from Klasies River Main Site, South Africa, by diffeomorphic surface mapping.

Related Experiment Videos

The Hunter syndrome in a 46 XX girl

Related Concept Videos

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