about
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGHAlternating hypoglycemia and hyperglycemia in a toddler with a homozygous p.R1419H ABCC8 mutation: an unusual clinical pictureAdams-Oliver SyndromeMutations in NOTCH1 cause Adams-Oliver syndromeHeterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeWNT7b mediates macrophage-induced programmed cell death in patterning of the vasculatureAssessment of gene-by-sex interaction effect on bone mineral densityDetection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization.Competing Factors Link to Bone Health in Polycystic Ovary Syndrome: Chronic Low-Grade Inflammation Takes a TollPontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.Strabismus genetics across a spectrum of eye misalignment disorders22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.The circadian modulation of leptin-controlled bone formation.Calcium and vitamin D intake and mortality: results from the Canadian Multicentre Osteoporosis Study (CaMos).Fatal congenital hypertrophic cardiomyopathy and a pancreatic nodule morphologically identical to focal lesion of congenital hyperinsulinism in an infant with costello syndrome: case report and review of the literature.GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation.Combined immunodeficiency associated with homozygous MALT1 mutations.HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development.Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.Identification of a sequence motif upstream of the Drosophila dopa decarboxylase gene that enhances heterologous gene expression.A variant of unknown significance in the GLA gene causing diagnostic uncertainty in a young female with isolated hypertrophic cardiomyopathy.Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.The molecular clock mediates leptin-regulated bone formation.Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in CostA cryptic familial rearrangement of 11p15.5, involving both imprinting centers, in a family with a history of short stature.A genome-wide copy number association study of osteoporotic fractures points to the 6p25.1 locus.Early-infantile galactosialidosis: prenatal presentation and postnatal follow-up.Abnormal pericyte recruitment as a cause for pulmonary hypertension in Adams-Oliver syndrome.Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.Severe, fetal-onset form of olivopontocerebellar hypoplasia in three sibs: PCH type 5?Anterolateral diaphragmatic hernia with body wall defect understood in relation to the abaxial domainCongenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiencyChildhood-onset hemiatrophy caused by unilateral morpheaAlleles of the estrogen receptor alpha-gene and an estrogen receptor cotranscriptional activator gene, amplified in breast cancer-1 (AIB1), are associated with quantitative calcaneal ultrasoundAssociations of the collagen type Ialpha1 Sp1 polymorphism with five-year rates of bone loss in older adultsRegulation of bone formation and vision by LRP5A new insight into the formation of osteolytic lesions in multiple myelomaPreaxial polydactyly in neurofibromatosis 1Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders
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description
hulumtues
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researcher
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wetenschapper
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հետազոտող
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name
Millan S Patel
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Millan S Patel
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Millan S Patel
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Millan S Patel
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Millan S Patel
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type
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Millan S Patel
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Millan S Patel
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Millan S Patel
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Millan S Patel
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Millan S Patel
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Millan Patel
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Millan S Patel
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Millan S Patel
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Millan S Patel
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Millan S Patel
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Millan S Patel
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P106
P21
P31
P496
0000-0001-7061-6837