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Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood

Clinical genetics, 2012-08, Vol.82 (2), p.121-130

2012

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Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation

British journal of dermatology (1951), 2010-03, Vol.162 (3), p.690-694

2010

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Adducted thumbs: A clinical clue to genetic diagnosis

European journal of medical genetics, 2013-03, Vol.56 (3), p.153-158

2013

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Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management

American journal of medical genetics, 2005-01, Vol.132A (3), p.234-243

2005

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Prader-Willi syndrome: Causes of death in an international series of 27 cases

American journal of medical genetics, 2004-02, Vol.124A (4), p.333-338

2004

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Cow's milk protein intolerance in infants under 1 year of age : a prospective epidemiological study

European journal of pediatrics, 1993-08, Vol.152 (8), p.640-644

1993

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Endochondral ossification in a case of progressive osseous heteroplasia in a young female child

Journal of pediatric orthopaedics. B, 2014-09, Vol.23 (5), p.477

2014

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Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?

Journal of medical genetics, 1999-11, Vol.36 (11), p.856-858

1999

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Determinants of neonatal IgE level: parity, maternal age, birth season and perinatal essential fatty acid status in infants of atopic mothers

Allergy (Copenhagen), 2004-09, Vol.59 (9), p.961-968

2004

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Healthcare transition in persons with intellectual disabilities: General issues, the Maastricht model, and Prader-Willi syndrome

American journal of medical genetics. Part C, Seminars in medical genetics, 2007-08, Vol.145C (3), p.241-247

2007

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A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

American journal of medical genetics. Part A, 2004-09, Vol.129A (3), p.312-315

2004

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The Kabuki (Niikawa-Kuroki) syndrome : further delineation of the phenotype in 29 non-Japanese patients

European journal of pediatrics, 1994-06, Vol.153 (6), p.438-445

1994

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Deletion of the long arm of chromosome 6: two new patients and literature review

Clinical genetics, 1996-09, Vol.50 (3), p.138-144

1996

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Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion

European journal of pediatrics, 1997-08, Vol.156 (8), p.636-638

1997

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Multifocal osteomyelitis in a child: a rare manifestation of cat scratch disease: a case report and systematic review of the literature

Journal of pediatric orthopaedics. B, 2006-07, Vol.15 (4), p.285

2006

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[51Cr]EDTA Intestinal Permeability in Children with Cowʼs Milk Intolerance

Journal of pediatric gastroenterology and nutrition, 1990-02, Vol.10 (2), p.189-192

1990

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Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related?

European journal of pediatrics, 1998-02, Vol.157 (2), p.170

1998

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815 Neonatal Presentation of Ehlers-Danlos Type Vii: Diagnostic Considerations

Pediatric research, 2010-11, Vol.68, p.410-410

2010

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Trisomy 7p: report of 2 patients and literature review

Genetic counseling, 2000, Vol.11 (4), p.347

2000

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Otoacoustic emissions in screening cleft lip and/or palate children for hearing loss—a feasibility study

International journal of pediatric otorhinolaryngology, 1998-08, Vol.44 (3), p.259-266

1998

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γ-linolenic acid supplementation for prophylaxis of atopic dermatitis: a randomized controlled trial in infants at high familial risk

The American journal of clinical nutrition, 2003-04, Vol.77 (4), p.943-951

2003

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Follow up study of cow's milk protein intolerant infants

European journal of pediatrics, 1992-10, Vol.151 (10), p.783-785

1992

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Does food intolerance play a role in juvenile chronic arthritis?

Rheumatology (Oxford, England), 1997-08, Vol.36 (8), p.905-908

1997

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A minimally invasive approach for efficient gene delivery to rodent hearts

Gene therapy, 2004-02, Vol.11 (3), p.260-265

2004

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Trisomy 17p due to a t(8; 17) (p23; p11.2)pat translocation. Case report and review of the literature

Clinical genetics, 1990-02, Vol.37 (2), p.148-152

1990

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Ehlers-Danlos arthrochalasia type (VIIA-B) - expanding the phenotype: from prenatal life through adulthood

Unique skin changes in a case of Albright hereditary osteodystrophy caused by a rare GNAS1 mutation

Adducted thumbs: A clinical clue to genetic diagnosis

Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management

Prader-Willi syndrome: Causes of death in an international series of 27 cases

Cow's milk protein intolerance in infants under 1 year of age : a prospective epidemiological study

Endochondral ossification in a case of progressive osseous heteroplasia in a young female child

Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?

Determinants of neonatal IgE level: parity, maternal age, birth season and perinatal essential fatty acid status in infants of atopic mothers

Healthcare transition in persons with intellectual disabilities: General issues, the Maastricht model, and Prader-Willi syndrome

A patient with a de novo 15q24q26.1 interstitial deletion, developmental delay, mild dysmorphism, and very blue irises

The Kabuki (Niikawa-Kuroki) syndrome : further delineation of the phenotype in 29 non-Japanese patients

Deletion of the long arm of chromosome 6: two new patients and literature review

Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion

Multifocal osteomyelitis in a child: a rare manifestation of cat scratch disease: a case report and systematic review of the literature

[51Cr]EDTA Intestinal Permeability in Children with Cowʼs Milk Intolerance

Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related?

815 Neonatal Presentation of Ehlers-Danlos Type Vii: Diagnostic Considerations

Trisomy 7p: report of 2 patients and literature review

Otoacoustic emissions in screening cleft lip and/or palate children for hearing loss—a feasibility study

γ-linolenic acid supplementation for prophylaxis of atopic dermatitis: a randomized controlled trial in infants at high familial risk

Follow up study of cow's milk protein intolerant infants

Does food intolerance play a role in juvenile chronic arthritis?

A minimally invasive approach for efficient gene delivery to rodent hearts

Trisomy 17p due to a t(8; 17) (p23; p11.2)pat translocation. Case report and review of the literature

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