993 results on '"Sutton V"'
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102. Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine
103. Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: Results of a clinician survey and analysis of a centralized testing database
104. Metabolomics in Clinical Practice: Improving Diagnosis and Informing Management
105. Valores poblacionales de referencia del perfil de salud CHIP-AE a partir de una muestra representativa de adolescentes escolarizados
106. Large-scale discovery of novel genetic causes of developmental disorders
107. A cross-sectional multicenter study of osteogenesis imperfecta in North America – results from the linked clinical research centers
108. Hip and knee replacement in the Spanish National Health System
109. Artroplastias de cadera y rodilla en el Sistema Nacional de Salud
110. Concordancia entre padres e hijos en la calidad de vida relacionada con la salud en niños con trastorno por déficit de atención con hiperactividad: estudio longitudinal
111. The Gender Medicine Team: “It Takes a Village”
112. Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1
113. Next-generation sequencing for disorders of low and high bone mineral density
114. Newborn Screening for Inborn Errors of Metabolism
115. Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy
116. A noncoding RNA modulator potentiates phenylalanine metabolism in mice
117. CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
118. Non-random X chromosome inactivation in Aicardi syndrome
119. Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism
120. Osteogenesis imperfecta tooth level phenotype analysis: Cross-sectional study
121. Malocclusion traits and Oral Health-Related Quality of Life in children with Osteogenesis Imperfecta (cross-sectional study)
122. De novo mutation in ancestral generations evolves haplotypes contributing to disease
123. Differential Diagnosis of Osteogenesis Imperfecta in Children
124. Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32
125. Perceptions and use of phenylbutyrate metabolite testing in urea cycle disorders: results of a clinician survey
126. Opportunities for fellowship education: the first year of the Medical Biochemical Genetics Clinical Core Seminar Series
127. Impact of COVID-19 on newborn screening in South Texas
128. Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)
129. The Spanish version of the Child Health and Illness Profile-Adolescent Edition (CHIP-AETM)
130. Sex Reversal in Two Mexican-American Siblings Secondary to a Splice-Site Mutation in the Gene for Steroidogenic Acute Regulatory Protein (STAR)
131. Focal Dermal Hypoplasia
132. Title Page / Table of Contents / Preface
133. Fiabilidad y validez del cuestionario de salud y calidad de vida para adolescentes Vecú et Santé Perçue de l’Adolescent (VSP-A)
134. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen
135. Pathogenic Variants in GPC4 Cause Keipert Syndrome
136. Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications
137. Craniofacial phenotypes associated with Robinow syndrome
138. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
139. Extremity anomalies associated with Robinow syndrome
140. Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome
141. Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency
142. Characterization of the Robinow syndrome skeletal phenotype, bone micro‐architecture, and genotype–phenotype correlations with the osteosclerotic form
143. Malocclusion traits and oral health–related quality of life in children with osteogenesis imperfecta
144. RecessiveACO2variants as a cause of isolated ophthalmologic phenotypes
145. Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)
146. Cell-based analysis ofCADvariants identifies individuals likely to benefit from uridine therapy
147. Management of Ornithine Transcarbamylase Deficiency in Pregnancy
148. The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm
149. Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
150. 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
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