Robert E. Grier

The French and North American phenotypes of pyruvate carboxylase deficiency, correlation with biotin containing protein by 3H-biotin incorporation, 35S-streptavidin labeling, and Northern blotting with a cloned cDNA probe.

FMR1 and the fragile X syndrome: Human genome epidemiology review

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death

The biochemical basis of mitochondrial diseases

Faciogenital dysplasia protein (FGD1) and Vav, two related proteins required for normal embryonic development, are upstream regulators of Rho GTPases

Phaeochromocytoma

Autism spectrum disorder in fragile X syndrome: A longitudinal evaluation

Biotin in microbes, the genes involved in its biosynthesis, its biochemical role and perspectives for biotechnological production

FMRP Stalls Ribosomal Translocation on mRNAs Linked to Synaptic Function and Autism

Determination of the structures of respiratory enzyme complexes from mammalian mitochondria

Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: A putative RhoRac guanine nucleotide exchange factor

Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase

Reactive oxygen species (ROS) as pleiotropic physiological signalling agents

Comparison of Cefuroxime With or Without Intranasal Fluticasone for the Treatment of Rhinosinusitis<SUBTITLE>The CAFFS Trial: A Randomized Controlled Trial</SUBTITLE>

Ovarian Transplantation between Monozygotic Twins Discordant for Premature Ovarian Failure

Fragile X‐associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines

Rho GTPases and signaling networks

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family

Distinct Clinical Features of Paraganglioma Syndromes Associated With <EMPH TYPE="ITAL">SDHB</EMPH> and <EMPH TYPE="ITAL">SDHD</EMPH> Gene Mutations

New hypotheses for the health-protective mechanisms of whole-grain cereals: what is beyond fibre?

DNA methylation and human disease

Redox Mechanisms in Neurodegeneration: From Disease Outcomes to Therapeutic Opportunities

Synthesis and Function of 3-Phosphorylated Inositol Lipids

Beans (Phaseolus spp.) – model food legumes

American Society of Clinical Oncology Recommendations on Fertility Preservation in Cancer Patients

The Diagnostic Evaluation and Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2

Rho GTPases and the Actin Cytoskeleton

Inheritable Biotin-Treatable Disorders and Associated Phenomena

BIOTIN INMETABOLISM ANDMOLECULARBIOLOGY

Clinical Practice Guideline (Update): Adult Sinusitis

Clinical practice guideline: Adult sinusitis

A clinical study of Noonan syndrome.

Second consensus statement on the diagnosis of multiple system atrophy

Pheochromocytoma and Paraganglioma: An Endocrine Society Clinical Practice Guideline

Technical Standards and Guidelines for Fragile X: The First of a Series of Disease-Specific Supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics

Amino Acids as biomarkers in the SOD1G93A mouse model of ALS

Phenotypic variation in biotinidase deficiency

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

Biotinidase deficiency: Initial clinical features and rapid diagnosis

Biotinidase deficiency: A novel vitamin recycling defect

Autosomal dominant inheritance of the Aarskog syndrome