Works matching IS 15524825 AND DT 2013 AND VI 161A AND IP 11
Results: 35
Short falls in treatment, management for pku raise concerns: Lack of medical care, coverage for affected adults bolsters call for long-term management of chronic conditions identified in newborn screening programs.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. viii, doi. 10.1002/ajmg.a.36296
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- Article
In this issue.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. x, doi. 10.1002/ajmg.a.36297
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- Article
The perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2691, doi. 10.1002/ajmg.a.36316
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Simpson-golabi-behmel syndrome: An X-linked encephalo-tropho-schisis syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2697, doi. 10.1002/ajmg.a.36317
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American Journal of Medical Genetics Part A: Volume 161A, Number 11, November 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. C1, doi. 10.1002/ajmg.a.36352
- Publication type:
- Article
Table of Contents, Volume 161A, Number 11, November 2013.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. fm i, doi. 10.1002/ajmg.a.36353
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- Article
The hutterite variant of treacher collins syndrome: A 28-year-old story solved.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2855, doi. 10.1002/ajmg.a.36172
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Malformations among the X-linked intellectual disability syndromes.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2741, doi. 10.1002/ajmg.a.36179
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Perspectives on RAGE signaling and its role in cardiovascular disease.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2750, doi. 10.1002/ajmg.a.36181
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MED 12 related disorders.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2734, doi. 10.1002/ajmg.a.36183
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Genetic counseling for susceptibility loci and neurodevelopmental disorders: The del15q11.2 as an example.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2846, doi. 10.1002/ajmg.a.36209
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Counseling parents before prenatal diagnosis: Do we need to say more about the sex chromosome aneuploidies?
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2873, doi. 10.1002/ajmg.a.36226
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Annals of morphology. Atavisms: Phylogenetic lazarus?
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2822, doi. 10.1002/ajmg.a.36234
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Clinical, genetic, and molecular aspects of split-hand/foot malformation: An update.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2860, doi. 10.1002/ajmg.a.36239
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Fragile X syndrome: From protein function to therapy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2809, doi. 10.1002/ajmg.a.36241
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Historical perspective on developmental concepts and terminology.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2711, doi. 10.1002/ajmg.a.36244
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Elements of morphology: General terms for congenital anomalies.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2726, doi. 10.1002/ajmg.a.36249
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Biallelic SEMA3A defects cause a novel type of syndromic short stature.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2880, doi. 10.1002/ajmg.a.36250
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Solving the puzzle of spinal muscular atrophy: What are the missing pieces?
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2836, doi. 10.1002/ajmg.a.36251
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Cornelia de Lange individuals with new and recurrent SMC1A mutations enhance delineation of mutation repertoire and phenotypic spectrum.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2909, doi. 10.1002/ajmg.a.36252
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The growing complexity of the intestinal polyposis syndromes.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2777, doi. 10.1002/ajmg.a.36253
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GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome).
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2756, doi. 10.1002/ajmg.a.36255
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Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: A co-morbidity model with additional copy number variations in a large family.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2890, doi. 10.1002/ajmg.a.36257
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Science, art, and mistery in the statues and in the anatomical machines of the prince of sansevero: The masterpieces of the 'Sansevero Chapel'.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2920, doi. 10.1002/ajmg.a.36258
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Multiple tumor types including leiomyoma and Wilms tumor in a patient with Gorlin syndrome due to 9q22.3 microdeletion encompassing the PTCH1 and FANC-C loci.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2894, doi. 10.1002/ajmg.a.36259
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Editor's forward to special articles: Elements of morphology.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2710, doi. 10.1002/ajmg.a.36260
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Encomium: Giovanni Neri-Polyhedral and down-to-earth mentor.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2687, doi. 10.1002/ajmg.a.36261
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Giovanni Neri.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2704, doi. 10.1002/ajmg.a.36262
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My memories of Professor Giovanni Neri: The cardiofaciocutaneous syndrome (CFC).
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2707, doi. 10.1002/ajmg.a.36263
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Epigenetics, fragile X syndrome and transcriptional therapy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2797, doi. 10.1002/ajmg.a.36264
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Sensenbrenner syndrome (Cranioectodermal dysplasia): Clinical and molecular analyses of 39 patients including two new patients.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2762, doi. 10.1002/ajmg.a.36265
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PTEN hamartoma tumor syndromes in childhood: Description of two cases and a proposal for follow-up protocol.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2902, doi. 10.1002/ajmg.a.36266
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Developmental disease and cancer: Biological and clinical overlaps.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2788, doi. 10.1002/ajmg.a.36267
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My memories of Dr. Giovanni Neri.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2706, doi. 10.1002/ajmg.a.36268
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Extra chromosome in trisomy 21 silence d in stem cells: Findings raise potential for new insights into Down syndrome and other chromosomal disorders.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. vii, doi. 10.1002/ajmg.a.36295
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- Article