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AEC syndrome: further evidence of a common genetic etiology with Rapp–Hodgkin syndrome

European journal of medical genetics, 2006-11, Vol.49 (6), p.520-522

2006

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A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene

Minerva pediatrica, 2011-04, Vol.63 (2), p.125

2011

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Auriculo-condylar syndrome or new syndrome?

Clinical dysmorphology, 2002-04, Vol.11 (2), p.143-144

2002

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Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

Pediatric surgery international, 1992-06, Vol.7 (4), p.308-310

1992

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Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation

Human genetics, 1983-01, Vol.64 (1), p.98-98

1983

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The overlap between Sotos and Beckwith-Wiedemann syndromes

The Journal of pediatrics, 2010-06, Vol.156 (6), p.1035-1036

2010

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Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies

Human genetics, 1983-01, Vol.64 (1), p.97-97

1983

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Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome

Clinical genetics, 1982-05, Vol.21 (5), p.297-300

1982

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The Coffin-Siris syndrome in two siblings

Pediatric radiology, 1986-05, Vol.16 (4), p.330-333

1986

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A new syndrome with ocular, skeletal and renal involvement

Pediatric radiology, 1987-03, Vol.17 (3), p.238-241

1987

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Kniest disease with Pierre Robin syndrome and hydrocephalus

Pediatric radiology, 1983-01, Vol.13 (2), p.106-109

1983

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Genomic imprinting and human pathology. 2

La Pediatria medica e chirurgica, 1995-09, Vol.17 (5), p.389

1995

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Genomic imprinting and human pathology. I. General Part

La Pediatria medica e chirurgica, 1995-07, Vol.17 (4), p.311

1995

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Ectodermal abnormalities in Kabuki syndrome

American journal of medical genetics, 1997-12, Vol.73 (3), p.263-266

1997

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Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity

Clinical genetics, 1986-12, Vol.30 (6), p.481-484

1986

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Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance

Clinical genetics, 1987-01, Vol.31 (1), p.13-18

1987

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Triphalangeal thumb and brachy-ectrodactyly syndrome

Clinical genetics, 1987-01, Vol.31 (1), p.13-18

1987

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Triphalangeal thumb and brachyectrodactyly syndrome: conformation of autosomal dominant inheritance

Clinical genetics, 1987, Vol.31 (1), p.13-18

1987

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Interstitial deletion of the short arm of chromosome 7 without craniosynostosis

Clinical genetics, 1981-06, Vol.19 (6), p.456-461

1981

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THE 49 XXXXX SYNDROME: Report of a Case with 48 XXXX/49 XXXXX Mosaicism

Acta Paediatrica, 1979-09, Vol.68 (5), p.769-771

1979

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Extra band in the 9qh+ chromosome in a normal father and in his child with multiple congenital anomalies

Human genetics, 1982-01, Vol.60 (3), p.294-294

1982

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AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome

European journal of medical genetics, 2006, Vol.49 (6), p.520-522

2006

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THE 49 XXXXX SYNDROME

Acta Paediatrica, 1979-09, Vol.68 (5), p.769-771

1979

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Auriculo-condylar syndrome or new syndrome?

Clinical dysmorphology, 2002, Vol.11 (2), p.143-144

2002

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Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes

AEC syndrome: further evidence of a common genetic etiology with Rapp–Hodgkin syndrome

A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene

Auriculo-condylar syndrome or new syndrome?

Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

Interstitial deletion of the long arm of chromosome 2 (q31q33) in a girl with multiple anomalies and mental retardation

The overlap between Sotos and Beckwith-Wiedemann syndromes

Interstitial deletion of the long arm of chromosome 3 in a patient with mental retardation and congenital anomalies

Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome

The Coffin-Siris syndrome in two siblings

A new syndrome with ocular, skeletal and renal involvement

Kniest disease with Pierre Robin syndrome and hydrocephalus

Genomic imprinting and human pathology. 2

Genomic imprinting and human pathology. I. General Part

Ectodermal abnormalities in Kabuki syndrome

Asymmetric crying facies with microcephaly and mental retardation. An autosomal dominant syndrome with variable expressivity

Triphalangeal thumb and brachy-ectrodactyly syndrome. Confirmation of autosomal dominant inheritance

Triphalangeal thumb and brachy-ectrodactyly syndrome

Triphalangeal thumb and brachyectrodactyly syndrome: conformation of autosomal dominant inheritance

Interstitial deletion of the short arm of chromosome 7 without craniosynostosis

THE 49 XXXXX SYNDROME: Report of a Case with 48 XXXX/49 XXXXX Mosaicism

Extra band in the 9qh+ chromosome in a normal father and in his child with multiple congenital anomalies

AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome

THE 49 XXXXX SYNDROME

Auriculo-condylar syndrome or new syndrome?

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