416 results on '"McDonald, Marie"'
Search Results
52. Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy
53. P265 Current UK wide use of the BASMI outcome measure in axial spondyloarthritis: an AStretch survey
54. eP081: Dandy Walker malformation in three unrelated families with biallelic variants in CAPN15 expands the phenotypic spectrum of oculogastrointestinal neurodevelopmental disorder
55. A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
56. Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males
57. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype–Phenotype Correlation
58. Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations 2021.05.21.21257099
59. Correction to:De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy (Genetics in Medicine, (2021), 23, 4, (653-660), 10.1038/s41436-020-01020-w)
60. Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria
61. Severe multisystem pathology, metabolic acidosis, mitochondrial dysfunction, and early death associated with an X-linked AIFM1 variant
62. Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations 2021.05.21.21257099
63. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome
64. Heterozygous variants in KCNC2 cause a broad spectrum of epilepsy phenotypes associated with characteristic functional alterations
65. Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
66. Opportunities for fellowship education: the first year of the Medical Biochemical Genetics Clinical Core Seminar Series
67. De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
68. Phenotypic target organ and biomarker variation within a family with late onset Fabry disease
69. Molecular and clinical analyses of Greig Cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
70. Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
71. A 137-kb deletion within the Potocki–Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia
72. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients
73. Subtelomeric deletion of chromosome 10p15.3: Clinical findings and molecular cytogenetic characterization
74. Clinical application of exome sequencing in undiagnosed genetic conditions
75. Further clinical and molecular delineation of the 15q24 microdeletion syndrome
76. Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders
77. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism
78. A Gain‐of‐Function Mutation inKCNMA1Causes Dystonia Spells Controlled With Stimulant Therapy
79. A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females
80. Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
81. Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses
82. De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
83. A pathogenic variant in theSETBP1hotspot results in a forme‐fruste Schinzel–Giedion syndrome
84. Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation
85. An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome
86. Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies
87. Physical activity and sedentary behaviour and their associations with clinical measures in axial spondyloarthritis
88. CSGALNACT1‐congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age
89. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects
90. Agalsidase-Beta Therapy for Advanced Fabry Disease: A Randomized Trial
91. Clinical experience with array CGH: Case presentations from nine months of practice
92. Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization
93. Pelger–Huët anomaly in a child with 1q42.3-44 deletion
94. Triploid Mosaicism in a 45,X/69,XXY Infant
95. Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature
96. Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2Pathogenic Variants
97. Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations
98. Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features
99. A Genocentric Approach to Discovery of Mendelian Disorders
100. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects
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