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Refined by: Journal Title: American Journal Of Medical Genetics. Part A remove
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1
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree
A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree
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A novel UBE3A truncating mutation in large Tunisian Angelman syndrome pedigree

American journal of medical genetics. Part A, 2010-01, Vol.152A (1), p.141-146 [Peer Reviewed Journal]

Copyright © 2009 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33179 ;PMID: 20034088

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2
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy
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Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2789 [Peer Reviewed Journal]

2017 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.38383 ;PMID: 28815944

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3
Profound Microcephaly, Primordial Dwarfism with evelopmental Brain malformations: A New Syndrome
Profound Microcephaly, Primordial Dwarfism with evelopmental Brain malformations: A New Syndrome
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Profound Microcephaly, Primordial Dwarfism with evelopmental Brain malformations: A New Syndrome

American journal of medical genetics. Part A, 2012, Vol.158 (8), p.1823-1831 [Peer Reviewed Journal]

2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833

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4
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype
Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype
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Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype

American journal of medical genetics. Part A, 2011-01, Vol.155 (1), p.207-214 [Peer Reviewed Journal]

Copyright © 2010 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright © 2010 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33777 ;PMID: 21204234

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5
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I
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Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I

American journal of medical genetics. Part A, 2012-06, Vol.158A (6), p.1455-1461 [Peer Reviewed Journal]

Copyright © 2012 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35356 ;PMID: 22581640

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6
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)
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A homozygous IER3IP1 mutation causes microcephaly with simplified gyral pattern, epilepsy, and permanent neonatal diabetes syndrome (MEDS)

American journal of medical genetics. Part A, 2012-11, Vol.158A (11), p.2788-2796 [Peer Reviewed Journal]

Copyright © 2012 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;Copyright © 2012 Wiley Periodicals, Inc. 2012 ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.35583 ;PMID: 22991235

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7
Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes
Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes
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Band-like intracranial calcification (BIC), microcephaly and malformation of brain development: A distinctive form of congenital infection like syndromes

American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1565-1568 [Peer Reviewed Journal]

Copyright © 2009 Wiley‐Liss, Inc. ;2009 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32894 ;PMID: 19530192

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8
Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo‐TORCH or a new syndrome
Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo‐TORCH or a new syndrome
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Microcephaly, malformation of brain development and intracranial calcification in sibs: Pseudo‐TORCH or a new syndrome

American journal of medical genetics. Part A, 2008-11, Vol.146A (22), p.2929-2936 [Peer Reviewed Journal]

Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;(c) 2008 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32549 ;PMID: 18925673

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9
Clinical features and management issues in Mowat-Wilson syndrome
Clinical features and management issues in Mowat-Wilson syndrome
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Clinical features and management issues in Mowat-Wilson syndrome

American journal of medical genetics. Part A, 2006-12, Vol.140A (24), p.2730-2741 [Peer Reviewed Journal]

Copyright © 2006 Wiley‐Liss, Inc. ;2007 INIST-CNRS ;(c) 2006 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.31530 ;PMID: 17103451

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10
Age related change in social behavior in children with Angelman syndrome
Age related change in social behavior in children with Angelman syndrome
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Age related change in social behavior in children with Angelman syndrome

American journal of medical genetics. Part A, 2011-06, Vol.155A (6), p.1290-1297 [Peer Reviewed Journal]

Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright © 2011 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.33964 ;PMID: 21567915

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11
Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study
Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study
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Spina bifida subtypes and sub-phenotypes by maternal race/ethnicity in the National Birth Defects Prevention Study

American journal of medical genetics. Part A, 2012-01, Vol.158A (1), p.109-115 [Peer Reviewed Journal]

Copyright © 2011 Wiley Periodicals, Inc. ;2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34383 ;PMID: 22140002

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12
14q(22) deletion in a familial case of anophthalmia with polydactyly
14q(22) deletion in a familial case of anophthalmia with polydactyly
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14q(22) deletion in a familial case of anophthalmia with polydactyly

American journal of medical genetics. Part A, 2003-07, Vol.120A (1), p.117-122 [Peer Reviewed Journal]

Copyright © 2003 Wiley‐Liss, Inc. ;Copyright 2003 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.10146 ;PMID: 12794703

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13
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma
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EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma

American journal of medical genetics. Part A, 2003-07, Vol.120A (3), p.370-373 [Peer Reviewed Journal]

Copyright © 2003 Wiley‐Liss, Inc. ;Copyright 2003 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.20064 ;PMID: 12838557

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14
Genetic Drift Letter from baghdad : Coffin-siris syndrome in a girl with absent kidney
Genetic Drift Letter from baghdad : Coffin-siris syndrome in a girl with absent kidney
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Genetic Drift Letter from baghdad : Coffin-siris syndrome in a girl with absent kidney

American journal of medical genetics. Part A, 2006-08, Vol.140 (16), p.1789-1790 [Peer Reviewed Journal]

2006 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;PMID: 16830329

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15
Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly
Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly
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Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly

American journal of medical genetics. Part A, 2008-10, Vol.146A (19), p.2490-2494 [Peer Reviewed Journal]

Copyright © 2008 Wiley‐Liss, Inc. ;2008 INIST-CNRS ;Copyright 2008 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.32479 ;PMID: 18792983

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16
Oculo‐palato‐cerebral syndrome: A third case supporting autosomal recessive inheritance
Oculo‐palato‐cerebral syndrome: A third case supporting autosomal recessive inheritance
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Oculo‐palato‐cerebral syndrome: A third case supporting autosomal recessive inheritance

American journal of medical genetics. Part A, 2004-09, Vol.130A (1), p.92-95 [Peer Reviewed Journal]

Copyright © 2004 Wiley‐Liss, Inc. ;Copyright 2004 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.30114 ;PMID: 15368502

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17
Congenital Disorder of Glycosylation Ila: The Trouble With Diagnosing a Dysmorphic Inborn Error of Metabolism
Congenital Disorder of Glycosylation Ila: The Trouble With Diagnosing a Dysmorphic Inborn Error of Metabolism
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Congenital Disorder of Glycosylation Ila: The Trouble With Diagnosing a Dysmorphic Inborn Error of Metabolism

American journal of medical genetics. Part A, 2012, Vol.158 (1), p.245-246 [Peer Reviewed Journal]

2015 INIST-CNRS ;ISSN: 1552-4825 ;EISSN: 1552-4833

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18
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis
A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis
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A previously undescribed de novo 4p15 deletion in a patient with apparently isolated metopic craniosynostosis

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2543-2551 [Peer Reviewed Journal]

Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright © 2011 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34201 ;PMID: 21910230

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19
Eighteen‐year follow‐up of a patient with cobalamin F disease (cblF): Report and review
Eighteen‐year follow‐up of a patient with cobalamin F disease (cblF): Report and review
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Eighteen‐year follow‐up of a patient with cobalamin F disease (cblF): Report and review

American journal of medical genetics. Part A, 2011-10, Vol.155 (10), p.2571-2577 [Peer Reviewed Journal]

Copyright © 2011 Wiley‐Liss, Inc. ;2015 INIST-CNRS ;Copyright © 2011 Wiley-Liss, Inc. ;ISSN: 1552-4825 ;ISSN: 1552-4833 ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.34220 ;PMID: 21910240

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20
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum
Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum
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Homozygous/compound heterozygote RYR1 gene variants: Expanding the clinical spectrum

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.386 [Peer Reviewed Journal]

2019 Wiley Periodicals, Inc. ;EISSN: 1552-4833 ;DOI: 10.1002/ajmg.a.61025 ;PMID: 30652412

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