646 results on '"Kayserili, Hülya"'
Search Results
52. DPP9 deficiency: An inflammasomopathy that can be rescued by lowering NLRP1/IL-1 signaling
53. Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
54. Mutations in WNT1 Cause Different Forms of Bone Fragility
55. ALX4 related parietal foramina mimicking encephalocele in prenatal period†
56. Sclerosteosis (craniotubular hyperostosis-syndactyly) with complex hyperphalangy of the index finger
57. Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
58. Expanding the molecular spectrum of pathogenic SHOC2 variants underlying Mazzanti syndrome
59. Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome
60. Expanding the molecular spectrum of pathogenicSHOC2variants underlying Mazzanti syndrome
61. Two male patients from an extended seven generation Turkish family diagnosed with Renpenning syndrome: identifying the causative mutation and review of the literature
62. A Progeroid Syndrome Caused by RAF1 deficiency Underscores the importance of RTK signaling for Human Development
63. A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot
64. GJB2 ilişkili non-sendromik işitme kaybı varyantlarının spektrumu ve Türk toplumundaki sıklıkları
65. Oral manifestations of 17 patients affected with mucopolysaccharidosis type VI
66. C5orf42 is the major gene responsible for OFD syndrome type VI
67. Microcephaly, dysmorphic features, corneal dystrophy, hairy nipples, underdeveloped labioscrotal folds, and small cerebellum in four patients
68. Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
69. LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
70. A New Family with a Novel OTUD6B Mutation: Practicing Whole Exome Sequencing for Antenatal Diagnosis of Tetralogy of Fallot
71. GJB2-RELATED NON-SYNDROMIC HEARING LOSS VARIANTS’ SPECTRUM AND THEIR FREQUENCY IN TURKISH POPULATION
72. Biallelic TERT variant leads to Hoyeraal–Hreidarsson syndrome with additional dyskeratosis congenita findings
73. Expanding the spectrum of syndromic PPP2R3C‐related XY gonadal dysgenesis to XX gonadal dysgenesis
74. Author Correction: RSPO2 inhibition of RNF43 and ZNRF3 governs limb development independently of LGR4/5/6
75. RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
76. DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies
77. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
78. Down Syndrome Diagnosis Based on Gabor Wavelet Transform
79. Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
80. Opsismodysplasia resulting from an insertion mutation in the SH2 domain, which destabilizes INPPL1
81. Severe manifestations of hand-foot-genital syndrome associated with a novel HOXA13 mutation
82. Mild nasal clefting may be predictive for ALX4 heterozygotes
83. Skull defects, alopecia, hypertelorism, and notched alae nasi caused by homozygous ALX4 gene mutation
84. Mutations in PYCR1 cause cutis laxa with progeroid features
85. Fraser syndrome due to mutations in GRIP1—Clinical phenotype in two families and expansion of the mutation spectrum
86. Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2
87. A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects
88. LİZENSEFALİ SPEKTRUMU OLGULARINDA GENOTİP-FENOTİP İLİŞKİSİ.
89. Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey
90. Holoprosencephaly: chromosomal abnormalities in the etiopathogenesis of 127 antenatal cases
91. Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
92. Correction: A Micropatterned Human-Specific Neuroepithelial Tissue for Modeling Gene and Drug-Induced Neurodevelopmental Defects (Advanced Science, (2021), 8, 5, (2001100), 10.1002/advs.202001100)
93. Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
94. HOLOPROSENCEPHALY: CHROMOSOMAL ABNORMALITIES IN THE ETIOPATHOGENESIS OF 127 ANTENATAL CASES
95. Neurodevelopmental Defects: A Micropatterned Human‐Specific Neuroepithelial Tissue for Modeling Gene and Drug‐Induced Neurodevelopmental Defects (Adv. Sci. 5/2021)
96. Extreme Growth Failure is a Common Presentation of Ligase IV Deficiency
97. A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
98. Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
99. Multiple Supernumerary Molars, Anterior Openbite, and Large Ear Lobules In Mucopolysaccharidosis Type VI Patient
100. OTX2 mutations contribute to the otocephaly-dysgnathia complex
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