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Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

American journal of medical genetics. Part A, 2014-09, Vol.164A (9), p.2360-2364

2014

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Methylation profiling in individuals with Russell-Silver syndrome

American journal of medical genetics. Part A, 2010-02, Vol.152A (2), p.347-355

2010

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Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2784-2790

2010

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Craniosynostosis associated with distal 5q‐trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis

American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.2931-2936

2007

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Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients

American journal of medical genetics. Part A, 2009-03, Vol.149A (3), p.372-379

2009

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Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color

Journal of the American Academy of Dermatology, 2005-10, Vol.53 (4), p.729-735

2005

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Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Journal of medical genetics, 2010-03, Vol.47 (3), p.155-161

2010

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Cutis Laxa Arising from Frameshift Mutations in Exon 30 of the Elastin Gene (ELN)

The Journal of biological chemistry, 1999-01, Vol.274 (2), p.981-986

1999

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Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita

Blood, 2005-08, Vol.106 (4), p.1246-1252

2005

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Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism

Prenatal diagnosis, 2006-06, Vol.26 (6), p.548-558

2006

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Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters

American journal of medical genetics, 2001-06, Vol.101 (1), p.65-69

2001

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Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

Molecular cytogenetics, 2008-11, Vol.1 (1), p.23-23, Article 23

2008

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A new missense mutation in glucocerebrosidase exon 9 of a non Jewish Caucasian type 1 Gaucher disease patient

Human molecular genetics, 1994-05, Vol.3 (5), p.821-823

1994

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Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

The Journal of pediatrics, 1981-08, Vol.99 (2), p.223-227

1981

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Precocious Puberty in Two Girls With PEHO Syndrome: A Clinical Feature Not Previously Described

Journal of child neurology, 2011-07, Vol.26 (7), p.851-857

2011

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Evidence for multi-site closure of the neural tube in humans

American journal of medical genetics, 1993-10, Vol.47 (5), p.723-743

1993

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Clinical variability within Brachmann-de Lange syndrome: A proposed classification system

American journal of medical genetics, 1993-11, Vol.47 (7), p.947-958

1993

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Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome

American journal of medical genetics, 1990-08, Vol.36 (4), p.434-439

1990

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Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent

Clinical genetics, 1999-01, Vol.55 (1), p.20-25

1999

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Recurrence of extrahepatic biliary atresia in two half sibs

American journal of medical genetics, 1992-06, Vol.43 (3), p.592-594

1992

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Confined chorionic mosaicism in prenatal diagnosis

Human genetics, 1987-10, Vol.77 (2), p.163-167

1987

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Fetal Progeria: Prenatal Sonographic Findings in Petty Syndrome

Journal of ultrasound in medicine, 2013-05, Vol.32 (5), p.881-883

2013

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Fetal Progeria: Prenatal Sonographic Findings in Petty Syndrome

Journal of ultrasound in medicine, 2013-05, Vol.32 (5), p.881-883

2013

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Somatic mosaicism for the p.His1047Arg mutation in PIK3CA in a girl with mesenteric lipomatosis

Methylation profiling in individuals with Russell-Silver syndrome

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons

Craniosynostosis associated with distal 5q‐trisomy: Further evidence that extra copy of MSX2 gene leads to craniosynostosis

Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation

Molecular breakpoint mapping of 6q11-q14 interstitial deletions in seven patients

Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization

Duplications of the critical Rubinstein–Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Cutis Laxa Arising from Frameshift Mutations in Exon 30 of the Elastin Gene (ELN)

Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita

Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism

Grandmaternal origin of an isochromosome 18p present in two maternal half-sisters

Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH

A new missense mutation in glucocerebrosidase exon 9 of a non Jewish Caucasian type 1 Gaucher disease patient

Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association

Precocious Puberty in Two Girls With PEHO Syndrome: A Clinical Feature Not Previously Described

Evidence for multi-site closure of the neural tube in humans

Clinical variability within Brachmann-de Lange syndrome: A proposed classification system

Apparent postnatal onset of some manifestations of the Wiedemann-Beckwith syndrome

Thalassemia carrier screening and prenatal diagnosis among the British Columbia (Canada) population of Chinese descent

Recurrence of extrahepatic biliary atresia in two half sibs

Confined chorionic mosaicism in prenatal diagnosis

Fetal Progeria: Prenatal Sonographic Findings in Petty Syndrome

Fetal Progeria: Prenatal Sonographic Findings in Petty Syndrome

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