Works matching IS 15524825 AND DT 2019 AND VI 179 AND IP 8
Results: 47
In This Issue.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1411, doi. 10.1002/ajmg.a.61279
- Publication type:
- Article
New Causal Candidate Genes and Enhancers Linked to Orofacial Clefting Identified.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1409, doi. 10.1002/ajmg.a.61278
- Publication type:
- Article
Cover Image, Volume 179A, Number 8, August 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. N.PAG, doi. 10.1002/ajmg.a.61277
- Publication type:
- Article
Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1543, doi. 10.1002/ajmg.a.61266
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- Article
Maternal nutrient intake and fetal gastroschisis: A case‐control study.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1535, doi. 10.1002/ajmg.a.61265
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- Publication type:
- Article
Multicentric osteolytic syndromes represent a phenotypic spectrum defined by defective collagen remodeling.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1652, doi. 10.1002/ajmg.a.61264
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- Publication type:
- Article
Birth seasonality studies in a large Prader–Willi syndrome cohort.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1531, doi. 10.1002/ajmg.a.61263
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- Article
Expanding the phenotypic spectrum associated with DPF2: A new case report.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1637, doi. 10.1002/ajmg.a.61262
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- Article
Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1628, doi. 10.1002/ajmg.a.61261
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- Article
Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1547, doi. 10.1002/ajmg.a.61260
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- Article
Skin picking disorder in 97 Italian and Spanish Cri du chat patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1525, doi. 10.1002/ajmg.a.61259
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- Publication type:
- Article
Gastrointestinal disorders in Down syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1426, doi. 10.1002/ajmg.a.61258
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- Article
Cytogenetic profile of patients with clinical spectrum of ambiguous genitalia, amenorrhea, and Turner phenotype: A 21‐year single‐center experience.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1516, doi. 10.1002/ajmg.a.61257
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- Publication type:
- Article
Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1622, doi. 10.1002/ajmg.a.61256
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- Publication type:
- Article
An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1459, doi. 10.1002/ajmg.a.61215
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- Article
Clinical features and mutational analysis in 114 young children with Wilson disease from South China.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1451, doi. 10.1002/ajmg.a.61254
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- Article
A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1615, doi. 10.1002/ajmg.a.61217
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- Publication type:
- Article
Splice variant in ARX leading to loss of C‐terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1483, doi. 10.1002/ajmg.a.61216
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- Publication type:
- Article
Muenke syndrome: Medical and surgical comorbidities and long‐term management.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1442, doi. 10.1002/ajmg.a.61199
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- Publication type:
- Article
A review of genetic factors underlying craniorachischisis and omphalocele: Inspired by a unique trisomy 18 case.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1642, doi. 10.1002/ajmg.a.61255
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- Article
Speech difficulties and patient health communication mediating effects on worry and health‐related quality of life in children, adolescents, and young adults with Neurofibromatosis Type 1.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1476, doi. 10.1002/ajmg.a.61197
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- Publication type:
- Article
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1603, doi. 10.1002/ajmg.a.61210
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- Article
Homozygous Type IX collagen variants (COL9A1, COL9A2, and COL9A3) causing recessive Stickler syndrome—Expanding the phenotype.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1498, doi. 10.1002/ajmg.a.61191
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- Publication type:
- Article
Incontinentia pigmenti in adults.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1415, doi. 10.1002/ajmg.a.61205
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- Publication type:
- Article
Noninvasive diagnosis of TRIT1‐related mitochondrial disorder by measuring i<sup>6</sup>A37 and ms<sup>2</sup>i<sup>6</sup>A37 modifications in tRNAs from blood and urine samples.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1609, doi. 10.1002/ajmg.a.61211
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- Publication type:
- Article
Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1580, doi. 10.1002/ajmg.a.61198
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Psychological well‐being in patients with aneurysms‐osteoarthritis syndrome.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1491, doi. 10.1002/ajmg.a.61209
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The α2 chain of type IX collagen is essential for type IX collagen biosynthesis.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1672, doi. 10.1002/ajmg.a.61208
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POGZ‐related epilepsy: Case report and review of the literature.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1631, doi. 10.1002/ajmg.a.61206
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Familial aggregation of "apple peel" intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1570, doi. 10.1002/ajmg.a.61195
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- Article
Gonosomal versus somatogonadal mosaicism: What is in a name?
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1678, doi. 10.1002/ajmg.a.61204
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- Publication type:
- Article
RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1598, doi. 10.1002/ajmg.a.61203
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- Publication type:
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Delineating the expanding phenotype associated with SCAPER gene mutation.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1665, doi. 10.1002/ajmg.a.61202
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- Publication type:
- Article
Loss of function BMP4 mutation supports the implication of the BMP/TGF‐β pathway in the etiology of combined pituitary hormone deficiency.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1591, doi. 10.1002/ajmg.a.61201
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- Publication type:
- Article
Glibenclamide treatment in a Cantú syndrome patient with a pathogenic ABCC9 gain‐of‐function variant: Initial experience.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1585, doi. 10.1002/ajmg.a.61200
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- Publication type:
- Article
Tuberous sclerosis in a patient from Nigeria.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1423, doi. 10.1002/ajmg.a.61194
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- Publication type:
- Article
Isolated postaxial polydactyly: Epidemiologic characteristics from a multicenter birth defects study.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1432, doi. 10.1002/ajmg.a.61193
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- Publication type:
- Article
Acromesomelic dysplasia Maroteaux‐type in patients from Vietnam.
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- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1420, doi. 10.1002/ajmg.a.61192
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- Publication type:
- Article
Refining the phenotype of the THG1L (p.Val55Ala mutation)‐related mitochondrial autosomal recessive congenital cerebellar ataxia.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1575, doi. 10.1002/ajmg.a.61196
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- Publication type:
- Article
Updating the neurodevelopmental profile of Alazami syndrome: Illustrating the role of developmental assessment in rare genetic disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1565, doi. 10.1002/ajmg.a.61189
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- Publication type:
- Article
Expansion of the clinical spectrum associated with AARS2‐related disorders.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1556, doi. 10.1002/ajmg.a.61188
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- Publication type:
- Article
Continuum of phenotypes in hereditary motor and sensory neuropathy with proximal predominance and Charcot–Marie–Tooth patients with TFG mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1507, doi. 10.1002/ajmg.a.61184
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- Publication type:
- Article
Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1466, doi. 10.1002/ajmg.a.61170
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- Publication type:
- Article
Introducing in AJMG Part A: Genetic Syndromes in Adults.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1413, doi. 10.1002/ajmg.a.61141
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- Publication type:
- Article
Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1408, doi. 10.1002/ajmg.a.40456
- Publication type:
- Article
Publication schedule for 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1407, doi. 10.1002/ajmg.a.40455
- Publication type:
- Article
Table of Contents, Volume 179A, Number 8, August 2019.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 8, p. 1401, doi. 10.1002/ajmg.a.40454
- Publication type:
- Article