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Paternal transmission of fragile X syndrome

American journal of medical genetics, 2004-08, Vol.129A (2), p.184-189

2004

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Pregnancy in a healthy woman with untreated citrullinemia

American journal of medical genetics, 2004-08, Vol.129A (1), p.77-82

2004

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Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation

Canadian Medical Association journal, 1999-07, Vol.161 (2), p.165

1999

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Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification

American journal of medical genetics, 2003-12, Vol.123A (2), p.179-182

2003

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Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature

American journal of medical genetics, 2004-02, Vol.125A (1), p.73-76

2004

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Paternal transmission of the congenital form of myotonic dystrophy type 1: A new case and review of the literature

American journal of medical genetics, 2002-01, Vol.107 (3), p.222-226

2002

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Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

American journal of medical genetics, 2001-07, Vol.102 (1), p.18-20

2001

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Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease

Biochimica et biophysica acta, 2002-12, Vol.1588 (3), p.247-253

2002

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No evidence of paternal transmission of fragile X syndrome

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.107-108

2005

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Response to letter: "No evidence of paternal transmission of fragile X syndrome" by Doris and Peter Steinbach

American journal of medical genetics. Part A, 2005-07, Vol.136A (1), p.109-110

2005

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Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency

Molecular genetics and metabolism, 1998-04, Vol.63 (4), p.254-262

1998

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Coping with dietary therapy in phenylketonuria: A case report

Canadian journal of behavioural science, 1988-10, Vol.20 (4), p.461-466

1988

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Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty

European journal of human genetics : EJHG, 1996, Vol.4 (3), p.153-159

1996

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Reply to correspondence from Martínez-Frías et al.-"Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada"

American journal of medical genetics. Part A, 2003-01, Vol.116A (1), p.102-102

2003

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Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings

American journal of medical genetics, 1998-08, Vol.78 (5), p.419-423

1998

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Parents of children with spinal muscular atrophy are not obligate carriers: Carrier testing is important for reproductive decision-making

American journal of medical genetics, 2002-01, Vol.107 (3), p.247-249

2002

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Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport

Pediatric research, 1968-11, Vol.2 (6), p.525-534

1968

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Glutamic Acid Decarboxylase and Gamma-aminobutyric Acid in Mammalian Kidney

Nature (London), 1969-11, Vol.224 (5222), p.916-917

1969

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Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease

Human mutation, 1995, Vol.5 (3), p.269-271

1995

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Cystathioninuria and Renal Iminoglycinuria in a Pedigree: A Perspective on Counseling

The New England journal of medicine, 1968-04, Vol.278 (17), p.924-927

1968

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Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

American journal of medical genetics. Part A, 2003-01, Vol.116A (1), p.101-101

2003

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Cystinuria: Increased Prevalence in Patients with Mental Disease

The New England journal of medicine, 1970-10, Vol.283 (15), p.783-786

1970

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Achondroplasia-hypochondroplasia complex in a newborn infant

American journal of medical genetics, 1999-06, Vol.84 (5), p.396-400

1999

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Profound thrombocytopenia complicating dietary erucic acid therapy for adrenoleukodystrophy

American journal of hematology, 1995-02, Vol.48 (2), p.132-133

1995

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Postmortem protocol

Pediatrics (Evanston), 1984-01, Vol.73 (1), p.111

1984

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Paternal transmission of fragile X syndrome

Pregnancy in a healthy woman with untreated citrullinemia

Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation

Oral‐facial‐digital syndrome VII is oral‐facial‐digital syndrome I: A clarification

Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader–Willi syndrome: A new case and review of the literature

Paternal transmission of the congenital form of myotonic dystrophy type 1: A new case and review of the literature

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

Novel mutations (Asn 484 Lys, Thr 500 Ala, Gly 438 Glu) in Morquio B disease

No evidence of paternal transmission of fragile X syndrome

Response to letter: "No evidence of paternal transmission of fragile X syndrome" by Doris and Peter Steinbach

Molecular Analysis and Prenatal Diagnosis of Human Fumarase Deficiency

Coping with dietary therapy in phenylketonuria: A case report

Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty

Reply to correspondence from Martínez-Frías et al.-"Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada"

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings

Parents of children with spinal muscular atrophy are not obligate carriers: Carrier testing is important for reproductive decision-making

Hyperdibasicaminoaciduria: an inherited disorder of amino acid transport

Glutamic Acid Decarboxylase and Gamma-aminobutyric Acid in Mammalian Kidney

Novel (cys152>arg) missense mutation in an Arab patient with Canavan disease

Cystathioninuria and Renal Iminoglycinuria in a Pedigree: A Perspective on Counseling

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada

Cystinuria: Increased Prevalence in Patients with Mental Disease

Achondroplasia-hypochondroplasia complex in a newborn infant

Profound thrombocytopenia complicating dietary erucic acid therapy for adrenoleukodystrophy

Postmortem protocol

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