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Papers in Case Reports in Genetics

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101. Increasing Evidence for the Association of Breast Implant‐Associated Anaplastic Large Cell Lymphoma and Li Fraumeni SyndromeCase Reports in Genetics · 2019
102. Ocular Manifestations of the NAA10 ‐Related SyndromeCase Reports in Genetics · 2019
103. Case of Inherited Partial AZFa Deletion without Impact on Male FertilityCase Reports in Genetics · 2019
104. First Report of Diabetes Phenotype due to a Loss‐of‐Function ABCC8 Mutation Previously Known to Cause Congenital HyperinsulinismCase Reports in Genetics · 2019
105. Two Novel Variants in the ATRX Gene Associated with Variable PhenotypesCase Reports in Genetics · 2019
106. Identification and Mapping of a 2,009‐bp DNA Deletion in SERPING1 of a Hereditary Angioedema PatientCase Reports in Genetics · 2019
107. Pallister‐Hall Syndrome Presenting in AdolescenceCase Reports in Genetics · 2019
108. Resolving a Multi‐Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP MutationCase Reports in Genetics · 2019
109. 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable EpilepsyCase Reports in Genetics · 2019
110. Niemann‐Pick Disease: An Underdiagnosed Lysosomal Storage DisorderCase Reports in Genetics · 2019
111. Novel SUFU Frameshift Variant Leading to Meningioma in Three Generations in a Family with Gorlin SyndromeCase Reports in Genetics · 2019
112. T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the LiteratureCase Reports in Genetics · 2018
113. Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome SequencingCase Reports in Genetics · 2018
114. Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell TraitCase Reports in Genetics · 2018
115. Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney SyndromeCase Reports in Genetics · 2018
116. A Rare Case of Heterozygous Gain of Function Thyrotropin Receptor Mutation Associated with Development of Thyroid Follicular CarcinomaCase Reports in Genetics · 2018
117. Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 VariantsCase Reports in Genetics · 2018
118. Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three ChildrenCase Reports in Genetics · 2018
119. Jumping Translocations of 1q in Myelodysplastic Syndrome and Acute Myeloid Leukemia: Report of Three Cases and Review of LiteratureCase Reports in Genetics · 2018
120. A Rare Case of Severe Congenital RYR1-Associated MyopathyCase Reports in Genetics · 2018
121. Novel TRAPPC11 Mutations in a Chinese Pedigree of Limb Girdle Muscular DystrophyCase Reports in Genetics · 2018
122. Whole Exome Sequencing and Molecular Modeling of a Missense Variant in TNFAIP3 That Segregates with Disease in a Family with Chronic Urticaria and AngioedemaENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) · 2018
123. Novel Splicing Mutation in B3GAT3 Associated with Short Stature, GH Deficiency, Hypoglycaemia, Developmental Delay, and Multiple Congenital AnomaliesCase Reports in Genetics · 2017
124. Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene—Expanding the Clinical PhenotypeCase Reports in Genetics · 2017
125. Goldenhar Syndrome with Dextrocardia and Right Pulmonary Hypoplasia: An Unusual AssociationCase Reports in Genetics · 2017
126. Palpitations and Asthenia Associated with Venlafaxine in a CYP2D6 Poor Metabolizer and CYP2C19 Intermediate MetabolizerENLIGHTEN (Jurnal Bimbingan dan Konseling Islam) · 2017
127. Neoplasia in Cri du Chat Syndrome from Italian and German DatabasesCase Reports in Genetics · 2017
128. A Newborn with Panhypopituitarism and SeizuresCase Reports in Genetics · 2017
129. FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?Case Reports in Genetics · 2017
130. Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic SyndromeCase Reports in Genetics · 2017
131. A SMARCA2 Mutation in the First Case Report of Nicolaides-Baraitser Syndrome in Latin America: Genotype-Phenotype CorrelationCase Reports in Genetics · 2017
132. Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan AfricaCase Reports in Genetics · 2017
133. SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral AbnormalitiesCase Reports in Genetics · 2017
134. Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the LiteratureCase Reports in Genetics · 2017
135. False Negative Cell-Free DNA Screening Result in a Newborn with Trisomy 13Case Reports in Genetics · 2016
136. NovelGLADeletion in a Cypriot Female Presenting with Cornea VerticillataCase Reports in Genetics · 2016
137. Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative CasesCase Reports in Genetics · 2016
138. Osteoporosis-Pseudoglioma in a Mauritanian Child due to a Novel Mutation inLRP5Case Reports in Genetics · 2016
139. Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)Case Reports in Genetics · 2016
140. Whole Exome Sequencing Reveals Compound Heterozygosity for Ethnically Distinct PEX7 Mutations Responsible for Rhizomelic Chondrodysplasia Punctata, Type 1Case Reports in Genetics · 2015
141. Unexplained False Negative Results in Noninvasive Prenatal Testing: Two Cases Involving Trisomies 13 and 18Case Reports in Genetics · 2015
142. Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY SyndromeCase Reports in Genetics · 2015
143. Exceptional Complex Chromosomal Rearrangements in Three GenerationsCase Reports in Genetics · 2015
144. Severe Psychomotor Delay in a Severe Presentation of Cat-Eye SyndromeCase Reports in Genetics · 2015
145. Intermediate MCAD Deficiency Associated with a Novel Mutation of theACADMGene: c.1052C>TCase Reports in Genetics · 2015
146. Different Cardiac Anomalies in Mother and Son with 4q-SyndromeCase Reports in Genetics · 2015
147. PWS/AS MS-MLPA Confirms Maternal Origin of 15q11.2 MicroduplicationCase Reports in Genetics · 2015
148. A NovelPHEXMutation in Japanese Patients with X-Linked Hypophosphatemic RicketsCase Reports in Genetics · 2015
149. Case of 7p22.1 Microduplication Detected by Whole Genome Microarray (REVEAL) in Workup of Child Diagnosed with AutismCase Reports in Genetics · 2015
150. A Prenatally AscertainedDe NovoTerminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female FetusCase Reports in Genetics · 2015