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Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

Science (American Association for the Advancement of Science), 1993-12, Vol.262 (5142), p.2039-2042

1993

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The Lower East Side’s Synagogue, Tenement, and Russian Bathhouse: Mikva’ot and the Excavation of a Mikvah at 5 Allen Street

American Jewish history, 2017-04, Vol.101 (2), p.163-196

BERGOFFEN, CELIA J.

2017

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Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene

Journal of medical genetics, 2003-08, Vol.40 (8), p.605-609

2003

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Clinical and molecular characterization of patients with distal 11q deletions

American journal of human genetics, 1995-03, Vol.56 (3), p.676-683

1995

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Linkage localization of X-linked Charcot-Marie-Tooth disease

American journal of human genetics, 1993-02, Vol.52 (2), p.312-318

1993

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Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria

American journal of medical genetics. Part A, 2008-11, Vol.146A (22), p.2851-2859

2008

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Paternal transmission of congenital myotonic dystrophy

Journal of medical genetics, 1994-07, Vol.31 (7), p.518-520

1994

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Familial autoimmune myasthenia gravis

Neurology, 1994-03, Vol.44 (3 Pt 1), p.551-551

1994

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Pharmacokinetics of Sapropterin in Patients with Phenylketonuria

Clinical pharmacokinetics, 2008-01, Vol.47 (12), p.817-825

2008

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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

Nature genetics, 1997-10, Vol.17 (2), p.146-148

1997

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Diaphragmatic hernia in tetrasomy 12p mosaicism

The Journal of pediatrics, 1993-04, Vol.122 (4), p.603-606

1993

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Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1

Human heredity, 1995-05, Vol.45 (3), p.121-128

1995

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X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms

Journal of medical genetics, 1994-03, Vol.31 (3), p.193-196

1994

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Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: High-risk clinic versus population-based registry

Gastroenterology (New York, N.Y. 1943), 2002-04, Vol.122 (4), p.940-947

2002

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Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 1993-01, Vol.16 (5), p.851-856

1993

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Some Cypriote Pottery From Ashkelon

Levant (London), 1988-01, Vol.20 (1), p.161-168

Bergoffen, Celia J.

1988

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IUE OBSERVATIONS OF X-RAY-SELECTED STARS

Publications of the Astronomical Society of the Pacific, 1988-06, Vol.100 (628), p.736-740

1988

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Early Late Cypriot Ceramic Exports to Canaan: White Slip I

Leaving No Stones Unturned, 2002, p.23

2002

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Book Review of Tell Kazel au Bronze Récent: Études céramiques, by Leila Badre, Emmanuelle Capet, and Barbara Vitale

American Journal of Archaeology, 2019, Vol.123 (2)

Bergoffen, Celia J.

2019

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Tell Kazel au Bronze Récent: Études céramiques

American Journal of Archaeology, 2019, Vol.123 (2)

Bergoffen, Celia J

2019

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Human Muscle Acetylcholine Receptor Alpha-subunit Gene (CHRNA1) Association with Autoimmune Myasthenia Gravis in Black, Mixed-Ancestry and Caucasian Subjects

Journal of autoimmunity, 1996-04, Vol.9 (2), p.175-180

1996

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Overland Trade in Northern Sinai: The Evidence of the Late Cypriot Pottery

Bulletin of the American Schools of Oriental Research, 1991-11, Vol.284 (284), p.59-76

Bergoffen, Celia J.

1991

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IUE observations of stars in the neighborhood of the Lambda Orionis nebula

The Astronomical journal, 1988-01, Vol.95, p.130-135

1988

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Leaving No Stones Unturned: Essays on the Ancient Near East and Egypt in Honor of Donald P. Hansen

Erica Ehrenberg

2002

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Leaving No Stones Unturned: Essays on the Ancient near East and Egypt in Honor of Donald P. Hansen

Ehrenberg, Erica

1, 2002

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Connexin Mutations in X-Linked Charcot-Marie-Tooth Disease

The Lower East Side’s Synagogue, Tenement, and Russian Bathhouse: Mikva’ot and the Excavation of a Mikvah at 5 Allen Street

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene

Clinical and molecular characterization of patients with distal 11q deletions

Linkage localization of X-linked Charcot-Marie-Tooth disease

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria

Paternal transmission of congenital myotonic dystrophy

Familial autoimmune myasthenia gravis

Pharmacokinetics of Sapropterin in Patients with Phenylketonuria

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain

Diaphragmatic hernia in tetrasomy 12p mosaicism

Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms

Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: High-risk clinic versus population-based registry

Marked elevation of urinary 3-hydroxydecanedioic acid in a malnourished infant with glycogen storage disease, mimicking long-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency

Some Cypriote Pottery From Ashkelon

IUE OBSERVATIONS OF X-RAY-SELECTED STARS

Early Late Cypriot Ceramic Exports to Canaan: White Slip I

Book Review of Tell Kazel au Bronze Récent: Études céramiques, by Leila Badre, Emmanuelle Capet, and Barbara Vitale

Tell Kazel au Bronze Récent: Études céramiques

Human Muscle Acetylcholine Receptor Alpha-subunit Gene (CHRNA1) Association with Autoimmune Myasthenia Gravis in Black, Mixed-Ancestry and Caucasian Subjects

Overland Trade in Northern Sinai: The Evidence of the Late Cypriot Pottery

IUE observations of stars in the neighborhood of the Lambda Orionis nebula

Leaving No Stones Unturned: Essays on the Ancient Near East and Egypt in Honor of Donald P. Hansen

Leaving No Stones Unturned: Essays on the Ancient near East and Egypt in Honor of Donald P. Hansen

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