Works matching IS 15524825 AND DT 2022 AND VI 188 AND IP 7
Results: 46
Loeys–Dietz syndrome caused by 1q41 deletion including TGFB2 is associated with a neurodevelopmental phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2237, doi. 10.1002/ajmg.a.62758
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Impact of parental relatedness on reproductive outcomes among the Old Order Amish of Lancaster County.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2119, doi. 10.1002/ajmg.a.62757
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MED12‐related Hardikar syndrome: Two additional cases and novel phenotypic features.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2231, doi. 10.1002/ajmg.a.62756
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Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2226, doi. 10.1002/ajmg.a.62755
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Genome‐wide DNA methylation profiling confirms a case of low‐level mosaic Kabuki syndrome 1.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2217, doi. 10.1002/ajmg.a.62754
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Novel truncating variants in FGD1 detected in two Danish families with Aarskog–Scott syndrome and myopathic features.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2251, doi. 10.1002/ajmg.a.62753
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Novel multilocus imprinting disturbances in a child with expressive language delay and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2209, doi. 10.1002/ajmg.a.62752
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Communication practices of parents and unaffected sibling needs in families impacted by a diagnosis of Angelman syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2110, doi. 10.1002/ajmg.a.62751
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Heritable connective tissue disorders in childhood: Decreased health‐related quality of life and mental health.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2096, doi. 10.1002/ajmg.a.62750
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The germline p53 activation syndrome: A new patient further refines the clinical phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2204, doi. 10.1002/ajmg.a.62749
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High prevalence of deleterious mutations in concomitant nonsyndromic cleft and outflow tract heart defects.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2082, doi. 10.1002/ajmg.a.62748
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A novel, de novo intronic variant in POGZ causes White–Sutton syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2198, doi. 10.1002/ajmg.a.62747
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A unique pancreatic phenotype in a child with a WDR19‐related ciliopathy: A case report and literature review of pancreatic involvement in ciliopathies.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2242, doi. 10.1002/ajmg.a.62746
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A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2192, doi. 10.1002/ajmg.a.62745
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Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2187, doi. 10.1002/ajmg.a.62744
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Germline mosaicism of a missense variant in KCNC2 in a multiplex family with autism and epilepsy characterized by long‐read sequencing.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2071, doi. 10.1002/ajmg.a.62743
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Evaluation of growth, puberty, osteoporosis, and the response to long‐term bisphosphonate therapy in four patients with osteoporosis‐pseudoglioma syndrome.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2061, doi. 10.1002/ajmg.a.62742
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Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2048, doi. 10.1002/ajmg.a.62741
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Smith Magenis syndrome: First case of congenital heart defect in a patient with Rai1 mutation.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2184, doi. 10.1002/ajmg.a.62740
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Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2036, doi. 10.1002/ajmg.a.62739
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Characteristic physical traits of first‐grade children in the United States with fetal alcohol spectrum disorders (FASD) and associated alcohol and drug exposures.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2019, doi. 10.1002/ajmg.a.62738
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Defining the mild variant of leukocyte adhesion deficiency type II (SLC35C1‐congenital disorder of glycosylation) and response to l‐fucose therapy: Insights from two new families and review of the literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2005, doi. 10.1002/ajmg.a.62737
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Impact of the COVID‐19 pandemic on medical genetics and genomics training: Perspective from clinical trainees.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1997, doi. 10.1002/ajmg.a.62736
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Amyoplasia in monochorionic monozygotic pregnancy following interstitial laser.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2178, doi. 10.1002/ajmg.a.62735
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SHOX far‐downstream deletion in a patient with nonsyndromic short stature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2173, doi. 10.1002/ajmg.a.62734
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Two Japanese patients with Noonan syndrome‐like disorder with loose anagen hair 2.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2246, doi. 10.1002/ajmg.a.62733
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Novel finding of lissencephaly and severe osteopenia in a Chinese patient with SATB2‐associated syndrome and a brief review of literature.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2168, doi. 10.1002/ajmg.a.62732
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The Society for Craniofacial Genetics and Developmental Biology 44th Annual Meeting.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2258, doi. 10.1002/ajmg.a.62731
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Microdeletion of 16q24.1–q24.2—A unique etiology of Lymphedema–Distichiasis syndrome and neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1990, doi. 10.1002/ajmg.a.62730
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Novel FGF9 variant contributes to multiple synostoses syndrome 3.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2162, doi. 10.1002/ajmg.a.62729
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Pitfalls of X‐chromosome inactivation testing in females with Fabry disease.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1979, doi. 10.1002/ajmg.a.62728
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Sleep‐disordered breathing in pediatric neurofibromatosis type 1.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1964, doi. 10.1002/ajmg.a.62722
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A novel GNAS variant presents with disorders of GNAS inactivation and cardiomyopathy.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2147, doi. 10.1002/ajmg.a.62726
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Microcephalic primordial dwarfism with predominant Meier–Gorlin phenotype, ichthyosis, and multiple joint deformities—Further expansion of DONSON Cell Cycle‐opathy phenotypic spectrum.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2139, doi. 10.1002/ajmg.a.62725
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Novel phenotypic feature in a patient with a recurrent NOTCH2 nonsense mutation.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2135, doi. 10.1002/ajmg.a.62724
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A new missense variant in RAB3GAP2 in a family with muscular dystrophy–short stature and defective autophagy: An expansion of the micro/Martsolf spectrum or a new phenotype?
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1972, doi. 10.1002/ajmg.a.62723
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Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2153, doi. 10.1002/ajmg.a.62727
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Predwes Accurately Predicts Probability of a Positive Exome Sequencing Test.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1938, doi. 10.1002/ajmg.a.62303
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- Article
Characterization of phenotypic range in DYRK1A haploinsufficiency syndrome using standardized behavioral measures.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1954, doi. 10.1002/ajmg.a.62721
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Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2129, doi. 10.1002/ajmg.a.62719
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In This Issue.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1941, doi. 10.1002/ajmg.a.62305
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Investigating Genetic Associations with Educational Attainment and Health Benefits.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1939, doi. 10.1002/ajmg.a.62304
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Publication schedule for 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1937, doi. 10.1002/ajmg.a.62302
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- Article
Early impact of X‐ and Y‐chromosome variations (XXX, XXY, XYY) on social communication and social emotional development in 1–2‐year‐old children.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1943, doi. 10.1002/ajmg.a.62720
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Table of Contents, Volume 188A, Number 7, July 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 1931, doi. 10.1002/ajmg.a.62301
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- Article
Cover Image, Volume 188A, Number 7, July 2022.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. i, doi. 10.1002/ajmg.a.62294
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- Article